Abstract is: Metachromatic leukodystrophy (MLD) is a lysosomal storage disease which is commonly listed in the family of leukodystrophies as well as among the sphingolipidoses as it affects the metabolism of sphingolipids. Leukodystrophies affect the growth and/or development of myelin, the fatty covering which acts as an insulator around nerve fibers throughout the central and peripheral nervous systems. MLD involves cerebroside sulfate accumulation. Metachromatic leukodystrophy, like most enzyme deficiencies, has an autosomal recessive inheritance pattern.
| rare disease | Q929833 |
| class of disease | Q112193867 |
| disease | Q12136 |
| neurometabolic disease | Q1337418 |
| sphingolipidosis | Q2309612 |
| sulfatidosis | Q7636192 |
| hereditary retinal dystrophy | Q18557955 |
| rare dyslipidemia | Q55785266 |
| rare genetic epilepsy | Q55785842 |
| rare hereditary metabolic disease with peripheral neuropathy | Q55785954 |
| sphingolipidosis with epilepsy | Q55787921 |
| metabolic disease with dementia | Q55789148 |
| unclassified primitive or secondary maculopathy | Q55789241 |
| P2293 | genetic association | ARSA | Q14905432 |
| PSAP | Q14914243 | ||
| P1995 | health specialty | neurology | Q83042 |
| endocrinology | Q162606 | ||
| P5008 | on focus list of Wikimedia project | WikiProject Medicine | Q4099686 |
| P1193 | prevalence | 0.000025 | |
| P780 | symptoms and signs | dementia | Q83030 |
| Q93325958 | ARSA-/- immortalized MSC |
| Q54836020 | GM00078 |
| Q54836079 | GM00197 |
| Q54836111 | GM00243 |
| Q54836523 | GM00905 |
| Q54836603 | GM01017 |
| Q54836604 | GM01018 |
| Q54837075 | GM01785 |
| Q54837297 | GM02093 |
| Q54837299 | GM02095 |
| Q54837376 | GM02214 |
| Q54837432 | GM02331 |
| Q54844291 | GM10199 |
| Q54852896 | GM23097 |
| Q54606123 | HPS0238 |
| Q54606126 | HPS0239 |
| Q54606127 | HPS0240 |
| Q107116394 | MPIi007-A |
| Q54952291 | SC601A/B-MLD |
| Q70684860 | 2 cases of metachromatic leukodystrophy with epilepsy |
| Q48607719 | A 5-year-old male child with late infantile metachromatic leukodystrophy: a case report |
| Q74268847 | A 9-bp deletion (2320del9) on the background of the arylsulfatase A pseudodeficiency allele in a metachromatic leukodystrophy patient and in a patient with nonprogressive neurological symptoms |
| Q71943542 | A D255H substitution in the arylsulphatase A gene of two unrelated Belgian patients with late-infantile metachromatic leukodystrophy |
| Q59791555 | A Novel Mutation of the Arylsulfatase A Gene in Late-Onset Metachromatic Leukodystrophy |
| Q35856129 | A Rare Case of Metachromatic Leukodystrophy Confirmed by Arylsulfatase A. |
| Q73629515 | A T > C transition causing a Leu > Pro substitution in a conserved region of the arylsulfatase A gene in a late infantile metachromatic leukodystrophy patient |
| Q83204577 | A case of adult onset metachromatic leukodystrophy |
| Q66925465 | A case of metachromatic leukodystrophy |
| Q39641394 | A case of metachromatic leukodystrophy with a chronic course (clinical-morphological-biochemical study) |
| Q64264705 | A closer look at ARSA activity in a patient with metachromatic leukodystrophy |
| Q70609536 | A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy |
| Q54505719 | A new analytical bench assay for the determination of arylsulfatase a activity toward galactosyl-3-sulfate ceramide: implication for metachromatic leukodystrophy diagnosis. |
| Q38315286 | A non-glycosylated and functionally deficient mutant (N215H) of the sphingolipid activator protein B (SAP-B) in a novel case of metachromatic leukodystrophy (MLD). |
| Q39468537 | A novel homozygous splicing mutation in PSAP gene causes metachromatic leukodystrophy in two Moroccan brothers. |
| Q51878123 | A novel mutation in the arylsulfatase A gene associated with adult-onset metachromatic leukodystrophy without clinical evidence of neuropathy. |
| Q72534005 | A variant form of metachromatic leukodystrophy without arylsulfatase deficiency |
| Q76572843 | AN INFANTILE FORM OF METACHROMATIC LEUKODYSTROPHY |
| Q80459685 | ARSA gene mutations in five Chinese metachromatic leukodystrophy patients |
| Q56502907 | Abnormal Lipopigments and Lysosomal Residual Bodies in Metachromatic Leukodystrophy |
| Q45874169 | Abnormalities of acid-base balance and predisposition to metabolic acidosis in Metachromatic Leukodystrophy patients |
| Q66941122 | Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy |
| Q71329598 | Activator protein-deficient metachromatic leukodystrophy: diagnosis in leukocytes using immunologic methods |
| Q36551249 | Adult Forms of Metachromatic Leukodystrophy: Clinical and Biochemical Approach |
| Q66919517 | Adult Metachromatic Leukodystrophy |
| Q67884261 | Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations |
| Q67236372 | Adult metachromatic leukodystrophy |
| Q67401698 | Adult metachromatic leukodystrophy |
| Q72302813 | Adult metachromatic leukodystrophy (sulphatide lipidosis) simulating acute schizophrenia. Report of a case |
| Q67971694 | Adult metachromatic leukodystrophy and pes cavus foot deformity |
| Q67063335 | Adult metachromatic leukodystrophy manifested as schizophrenic psychosis (author's transl) |
| Q37806061 | Adult metachromatic leukodystrophy treated by allo-SCT and a review of the literature. |
| Q36682457 | Adult metachromatic leukodystrophy with an unusual relapsing-remitting course |
| Q48892813 | Adult metachromatic leukodystrophy without deficiency of arylsulphatase |
| Q80109297 | Adult metachromatic leukodystrophy: a new mutation in the schizophrenia-like phenotype with early neurological signs |
| Q24557558 | Adult metachromatic leukodystrophy: disorganized schizophrenia-like symptoms and postpartum depression in 2 sisters. |
| Q48430566 | Adult metachromatic leukodystrophy: neurophysiologic findings |
| Q74166057 | Adult metachromatic leukodystrophy: three cases with normal nerve conduction velocities in a family |
| Q45265068 | Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene |
| Q67491269 | Adult-onset mettachromatic leukodystophy presenting as isolated peripheral neuropathy |
| Q84338970 | Adult-type metachromatic leukodystrophy mimicking multiple sclerosis |
| Q48129264 | Adult-type metachromatic leukodystrophy with a compound heterozygote mutation showing character change and dementia |
| Q51513066 | Adult-type metachromatic leukodystrophy with compound heterozygous ARSA mutations: a case report and phenotypic comparison with a previously reported case. |
| Q51953623 | Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). |
| Q72672432 | Alterations of brain metabolites in metachromatic leukodystrophy as detected by localized proton magnetic resonance spectroscopy in vivo |
| Q46005676 | Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia. |
| Q28245350 | An 11-bp deletion in the arylsulfatase A gene of a patient with late infantile metachromatic leukodystrophy |
| Q48071808 | An AT-deletion causing a frameshift in the arylsulfatase A gene of a late infantile metachromatic leukodystrophy patient |
| Q77299836 | An Asn > Lys substitution in saposin B involving a conserved amino acidic residue and leading to the loss of the single N-glycosylation site in a patient with metachromatic leukodystrophy and normal arylsulphatase A activity |
| Q69546118 | An activator of cerebroside sulphatase in human normal liver and in cases of congenital metachromatic leukodystrophy |
| Q69928973 | An adult onset metachromatic leukodystrophy with dominant inheritance and normal arylsulphatase A levels |
| Q41518862 | An adult-type metachromatic leukodystrophy caused by substitution of serine for glycine-122 in arylsulfatase A. |
| Q43105983 | An arylsulphatase A (ARSA) frameshift mutation (289insG) in metachromatic leukodystrophy (MLD). |
| Q68292909 | An assay for the rapid detection of the arylsulfatase A pseudodeficiency allele facilitates diagnosis and genetic counseling for metachromatic leukodystrophy |
| Q48744611 | An improved method for the determination of leukocyte arylsulfatase A and its application to the diagnosis of metachromatic leukodystrophy in homozygous and heterozygous states |
| Q94324967 | An unusual arylsulfatase A pseudodeficiency allele carrying a splice site mutation in a metachromatic leukodystrophy patient |
| Q72492330 | An unusual form of metachromatic leukodystrophy in three siblings |
| Q39525647 | An unusual homozygous arylsulfatase: a pseudodeficiency in a metachromatic leukodystrophy Tunisian patient |
| Q58544933 | An unusual presentation of gall bladder papillomatosis in association with metachromatic leukodystrophy |
| Q48573385 | Analysis of fatty acids and sphingosines from urinary sulfatides in a patient with metachromatic leukodystrophy by gas chromatography-mass spectrometry |
| Q36756813 | Anti-inflammatory Therapy With Simvastatin Improves Neuroinflammation and CNS Function in a Mouse Model of Metachromatic Leukodystrophy |
| Q69778600 | Arylsulfatase A deficiency in bone marrow fibroblasts of two different forms of metachromatic leukodystrophy |
| Q67270269 | Arylsulfatase activity in human urine: quantitative studies on patients with lysosomal disorders including metachromatic leukodystrophy |
| Q39101305 | Arylsulfatases A and B in Metachromatic Leukodystrophy and Maroteaux-Lamy Syndrome: Studies with 4-Methylumbelliferyl Sulfate |
| Q72421971 | Arylsulfatases A and B in leukocytes: a comparative statistical study of late infantile and juvenile forms of metachromatic leukodystrophy and controls |
| Q67051077 | Ascorbate-2-sulfate levels in metachromatic leukodystrophy patients |
| Q100525592 | Association of age at onset and first symptoms with disease progression in patients with metachromatic leukodystrophy |
| Q48587278 | Atypical clinical course in juvenile metachromatic leukodystrophy involving novel arylsulfatase A gene mutations |
| Q72490152 | Auditory evoked brainstem response and high-performance liquid chromatography sulfatide assay as early indices of metachromatic leukodystrophy |
| Q71113428 | Biliary disease in metachromatic leukodystrophy |
| Q41537505 | Biochemical Pathogenesis of Genetic Leukodystrophies: Comparison of Metachromatic Leukodystrophy and Globoid Cell Leukodystrophy (Krabbe's Disease) |
| Q72502036 | Biochemical abnormalities of metachromatic leukodystrophy in an adult psychiatric population |
| Q68871443 | Biochemical findings after bone marrow transplantation for metachromatic leukodystrophy: a preliminary report |
| Q49041493 | Biochemical studies of metachromatic leukodystrophy in three siblings |
| Q43890879 | Bone marrow stem cell-based gene transfer in a mouse model for metachromatic leukodystrophy: effects on visceral and nervous system disease manifestations |
| Q33607275 | Bone marrow transplantation as effective treatment of central nervous system disease in globoid cell leukodystrophy, metachromatic leukodystrophy, adrenoleukodystrophy, mannosidosis, fucosidosis, aspartylglucosaminuria, Hurler, Maroteaux-Lamy, and S |
| Q33765215 | Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome |
| Q72646337 | Bone marrow transplantation for late infantile metachromatic leukodystrophy: pathogenic investigation for graft rejection |
| Q47808429 | Bone marrow transplantation in metachromatic leukodystrophy caused by saposin-B deficiency: a case report with a 3-year follow-up period |
| Q104582050 | Brain cell type-specific endocytosis of arylsulfatase A identifies limitations of enzyme-based therapies for metachromatic leukodystrophy |
| Q72612908 | Brain lysosomal enzymes in generalized gangliosidosis and metachromatic leukodystrophy |
| Q71754979 | Case report: four-year follow-up of bone-marrow transplantation in late juvenile metachromatic leukodystrophy |
| Q58705884 | Central Precocious Puberty in a Child With Metachromatic Leukodystrophy |
| Q33903446 | Cerebral gray and white matter changes and clinical course in metachromatic leukodystrophy |
| Q49082642 | Cerebroside-sulphatase and arylsulphatase A deficiency in metachromatic leukodystrophy (ML) |
| Q72379351 | Characteristics of the dementia in late-onset metachromatic leukodystrophy |
| Q28188590 | Characterization of urinary sulfatides in metachromatic leukodystrophy using electrospray ionization-tandem mass spectrometry |
| Q43817910 | Chemical Detection of Metachromatic Leukodystrophy in Disease and Carrier States |
| Q51229575 | Chemical studies of two cerebral biopsies in juvenile metachromatic leukodystrophy: The molecular composition of cerebrosides and sulfatides |
| Q45016728 | Chemodiagnosis of metachromatic leukodystrophy (sulfatide lipoidosis) |
| Q96953652 | Chinese Cases of Metachromatic Leukodystrophy with the Novel Missense Mutations in ARSA Gene |
| Q41961483 | Chronic hemorrhagic pancreatitis in gallbladder polyposis as an initial symptom of metachromatic leukodystrophy |
| Q72226539 | Clinical and electrophysiological characteristics of peripheral nerve involvement in metachromatic leukodystrophy (7 cases) |
| Q36545910 | Clinical and genealogical report on a new family with three cases of adult metachromatic leukodystrophy |
| Q67804549 | Clinical and ultrastructural ocular histopathologic studies of adult-onset metachromatic leukodystrophy |
| Q39201191 | Clinical course of adult metachromatic leukodystrophy presenting as schizophrenia. A report of two living cases in siblings |
| Q71531850 | Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation |
| Q52017337 | Clinical symptoms of adult metachromatic leukodystrophy and arylsulfatase A pseudodeficiency. |
| Q102055840 | Clinical, Biochemical, and Molecular Characterization of Metachromatic Leukodystrophy Among Egyptian Pediatric Patients: Expansion of the ARSA Mutational Spectrum |
| Q72514046 | Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy |
| Q100380594 | Co-occurrence of Metachromatic Leukodystrophy in Phelan-McDermid Syndrome |
| Q47632384 | Coincidence of two novel arylsulfatase A alleles and mutation 459+1G>A within a family with metachromatic leukodystrophy: molecular basis of phenotypic heterogeneity |
| Q43587083 | Colorimetric determination of sulphatide in cultured fibroblasts from patients with various types of metachromatic leukodystrophy after sulphatide loading test |
| Q39951813 | Comparison of properties of the enzymes involved in metachromatic leukodystrophy and in Tay-Sachs disease |
| Q36412160 | Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts |
| Q72860646 | Complex arylsulfatase A alleles causing metachromatic leukodystrophy |
| Q30501589 | Compound heterozygosity for metachromatic leukodystrophy and arylsulfatase A pseudodeficiency alleles is not associated with progressive neurological disease |
| Q104496112 | Comprehensive clinical, biochemical, radiological and genetic analysis of 28 Turkish cases with suspected metachromatic leukodystrophy and their relatives |
| Q71851392 | Confirmation of metachromatic leukodystrophy and fucosidosis by enzyme analysis of saliva |
| Q77903200 | Contribution of arylsulfatase A mutations located on the same allele to enzyme activity reduction and metachromatic leukodystrophy severity |
| Q71839471 | Correction of Abnormal Cerebroside Sulfate Metabolism in Cultured Metachromatic Leukodystrophy Fibroblasts |
| Q36147497 | Correction of brain oligodendrocytes by AAVrh.10 intracerebral gene therapy in metachromatic leukodystrophy mice. |
| Q72665523 | Correction of enzyme deficiency in metachromatic leukodystrophy fibroblasts by retroviral-mediated transfer of the human arylsulphatase A gene |
| Q30501325 | Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells |
| Q92857646 | Correction to: Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) |
| Q27637145 | Defective oligomerization of arylsulfatase a as a cause of its instability in lysosomes and metachromatic leukodystrophy |
| Q72447737 | Demonstration of arylsulfatase A deficiency in metachromatic leukodystrophy and prenatal diagnosis of the disease |
| Q33753855 | Demyelination load as predictor for disease progression in juvenile metachromatic leukodystrophy |
| Q28276041 | Detection of a point mutation in sphingolipid activator protein-1 mRNA in patients with a variant form of metachromatic leukodystrophy |
| Q49305126 | Detection of donor lymphocytes in the cerebrospinal fluid of a patient with metachromatic leukodystrophy following bone marrow transplantation. |
| Q67427991 | Detection of homozygotes and heterozygotes for metachromatic leukodystrophy in lymphoid cell lines and peripheral leukocytes |
| Q39280721 | Determination of lysosomal enzymes in saliva. Confirmation of the diagnosis of metachromatic leukodystrophy and fucosidosis by enzyme analysis |
| Q28297086 | Developing therapeutic approaches for metachromatic leukodystrophy |
| Q56764352 | Development of the Impact of Juvenile Metachromatic Leukodystrophy on Physical Activities scale |
| Q51785448 | Diagnosis of metachromatic leukodystrophy by immune quantification of arylsulphatase A protein and activity in dried blood spots. |
| Q89955208 | Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome |
| Q36985153 | Diagnosis of metachromatic leukodystrophy, Krabbe disease, and Farber disease after uptake of fatty acid-labeled cerebroside sulfate into cultured skin fibroblasts |
| Q44320343 | Diagnostic enzyme studies in patients with metachromatic leukodystrophy, and their relatives |
| Q34526095 | Diffusion and ADC-map images detect ongoing demyelination on subcortical white matter in an adult metachromatic leukodystrophy patient with autoimmune Hashimoto thyroiditis |
| Q80981648 | Diffusion-weighted imaging findings in juvenile metachromatic leukodystrophy |
| Q41549216 | Diffusion-weighted magnetic resonance imaging findings in a case of metachromatic leukodystrophy |
| Q72524763 | Discrimination between metachromatic leukodystrophy and pseudo-deficiency of arylsulfatase A by restriction digest of amplified gene fragments |
| Q39065968 | Discussion: Metachromatic Leukodystrophy, An Unusual Case with a Subtle Cerebroside Sulfatase Defect |
| Q99344067 | Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy |
| Q79610632 | Early marrow transplantation in a pre-symptomatic neonate with late infantile metachromatic leukodystrophy does not halt disease progression |
| Q48629521 | Efficacy of enzyme replacement therapy in an aggravated mouse model of metachromatic leukodystrophy declines with age. |
| Q52872957 | Efficacy of hematopoietic cell transplantation in metachromatic leukodystrophy: the Dutch experience. |
| Q39965824 | Electron microscopic investigation of inclusion material in a case of adult metachromatic leukodystrophy; Observations on kidney biopsy, peripheral nerve and cerebral white matter |
| Q90087621 | Electroneurography and Advanced Neuroimaging Profile in Pediatric-onset Metachromatic Leukodystrophy |
| Q73481829 | Elevated sulfatide excretion in compound heterozygotes of metachromatic leukodystrophy and ASA-pseudodeficiency allele |
| Q45005777 | Elevated sulfatide excretion in heterozygotes of metachromatic leukodystrophy: dependence on reduction of arylsulfatase A activity |
| Q84166148 | Enhancing cranial nerves and cauda equina: an emerging magnetic resonance imaging pattern in metachromatic leukodystrophy and krabbe disease |
| Q71633843 | Enzymatic abnormality of the carrier state in metachromatic leukodystrophy |
| Q28240132 | Enzyme replacement improves nervous system pathology and function in a mouse model for metachromatic leukodystrophy |
| Q35964228 | Enzyme replacement in the CSF to treat metachromatic leukodystrophy in mouse model using single intracerebroventricular injection of self-complementary AAV1 vector |
| Q67687044 | Enzyme studies of a patient suffering from metachromatic leukodystrophy and his family members |
| Q28292170 | Enzyme, cell and gene-based therapies for metachromatic leukodystrophy |
| Q39180108 | Enzymic detection of metachromatic leukodystrophy patients and heterozygotes |
| Q43570481 | Enzymic studies of sulphatases in tissues of the normal human and in metachromatic leukodystrophy with multiple sulphatase deficiencies: arylsulphatases A, B and C, cerebroside sulphatase, psychosine sulphatase and steroid sulphatases |
| Q66703810 | Enzymologic detection of metachromatic leukodystrophy: limitations in prenatal diagnosis |
| Q51222240 | Evaluation of the metabolic defect in metachromatic leukodystrophy (MLD) |
| Q91111319 | Evolutionary redesign of the lysosomal enzyme arylsulfatase A increases efficacy of enzyme replacement therapy for metachromatic leukodystrophy |
| Q40274931 | Ex vivo cell-mediated gene therapy for metachromatic leukodystrophy using neurospheres. |
| Q40429108 | Expression and purification of a human, soluble Arylsulfatase A for Metachromatic Leukodystrophy enzyme replacement therapy |
| Q39122613 | Fetal Metachromatic Leukodystrophy: Pathology, Biochemistry and a Study of In Vitro Enzyme Replacement in CNS Tissue |
| Q72740867 | Fiber type disproportion in metachromatic leukodystrophy |
| Q69924814 | First trimester prenatal diagnosis of metachromatic leukodystrophy on chorionic villi by 'immunoprecipitation-electrophoresis' |
| Q33828753 | Four novel ARSA gene mutations with pathogenic impacts on metachromatic leukodystrophy: a bioinformatics approach to predict pathogenic mutations |
| Q92624463 | Gallbladder Papilloma in a Child Unmasking Metachromatic Leukodystrophy: A Case Report With Review of Literature |
| Q87922946 | Gallbladder Polyps in Metachromatic Leukodystrophy |
| Q98777800 | Gallbladder cancer with ascites in a child with metachromatic leukodystrophy |
| Q67011540 | Gallbladder lesion in metachromatic leukodystrophy (author's transl) |
| Q87423130 | Gallbladder polyposis in metachromatic leukodystrophy |
| Q94472114 | Gene symbol: ARSA. Disease: metachromatic leukodystrophy |
| Q94472118 | Gene symbol: ARSA. Disease: metachromatic leukodystrophy |
| Q94472121 | Gene symbol: ARSA. Disease: metachromatic leukodystrophy |
| Q82748970 | Gene symbol: ARSA. Disease: metachromatic leukodystrophy |
| Q39339697 | Gene therapy for lysosomal storage disorders: recent advances for metachromatic leukodystrophy and mucopolysaccaridosis I. |
| Q64382891 | Gene therapy for metachromatic leukodystrophy |
| Q35112505 | Gene therapy of metachromatic leukodystrophy reverses neurological damage and deficits in mice |
| Q92270989 | General anesthesia safety in progressive leukodystrophies: A retrospective study of patients with Krabbe disease and metachromatic leukodystrophy |
| Q99574620 | Generation of a human iPSC line (MPIi007-A) from a patient with Metachromatic leukodystrophy |
| Q72579615 | Genetic complementation in somatic cell hybrids of cerebroside sulfatase activator deficiency and metachromatic leukodystrophy fibroblasts |
| Q34707253 | Genetic heterogeneity in metachromatic leukodystrophy |
| Q72591546 | Genotype Assignments in a Family with the Pseudo Arylsulfatase A Deficiency Trait without Metachromatic Leukodystrophy |
| Q76861402 | HISTOLOGICAL STUDY OF RETINAL AND OPTIC NERVE CHANGES DURING METACHROMATIC LEUKODYSTROPHY (SCHOLZ-GREENFIELD DISEASE) |
| Q69866122 | HPLC analysis of urinary sulfatide: an aid in the diagnosis of metachromatic leukodystrophy |
| Q37284902 | Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. |
| Q34681902 | Hemorrhagic cholecystitis as a likely cause of nontraumatic hemobilia in metachromatic leukodystrophy: report of a case |
| Q74352540 | High prevalence of I179S mutation in patients with late-onset metachromatic leukodystrophy |
| Q40539443 | High residual arylsulfatase A (ARSA) activity in a patient with late-infantile metachromatic leukodystrophy |
| Q69222665 | Histochemical and biochemical studies of urinary lipids in metachromatic leukodystrophy and Fabry's disease |
| Q72130142 | Histochemical study on a case of metachromatic leukodystrophy |
| Q79422385 | Histopathological studies in sulphatide lipidosis (metachromatic leukodystrophy) |
| Q81085303 | Homozygote for mutation c.1204 + 1G > A of the ARSA gene presents with a late-infantile form of metachromatic leukodystrophy and a rare MRI white matter lesion type |
| Q70723877 | Human urinary sulfatides in patients with sulfatidosis (metachromatic leukodystrophy) |
| Q72642892 | Hypophyseal disorders and results of biochemical investigation in 2 sisters with metachromatic leukodystrophy |
| Q64973403 | Identification of 12 novel mutations and two new polymorphisms in the arylsulfatase A gene: haplotype and genotype-phenotype correlation studies in Spanish metachromatic leukodystrophy patients. |
| Q98897342 | Identification of a missense ARSA mutation in metachromatic leukodystrophy and its potential pathogenic mechanism |
| Q24679251 | Identification of a mutation in the arylsulfatase A gene of a patient with adult-type metachromatic leukodystrophy |
| Q38976482 | Identification of a new Arylsulfatase A (ARSA) gene mutation in Tunisian patients with metachromatic leukodystrophy (MLD). |
| Q47642508 | Identification of a novel mutation in ARSA gene in three patients of an Iranian family with metachromatic leukodystrophy disorder |
| Q57227133 | Identification of a novel splicing mutation in the ARSA gene in a patient with late-infantile form of metachromatic leukodystrophy |
| Q79098363 | Identification of nine novel arylsulfatase a (ARSA) gene mutations in patients with metachromatic leukodystrophy (MLD) |
| Q28290759 | Identification of seven novel mutations associated with metachromatic leukodystrophy |
| Q72555844 | Immunofluorescence staining and immunological studies of arylsulphatase a of multiple sulphatase deficiency (MSD) and metachromatic leukodystrophy (MLD) fibroblasts |
| Q39189371 | Immunologic Studies of Arylsulfatase A in Normal and Metachromatic Leukodystrophy Liver |
| Q70712030 | Immunological studies of sulfatase A in normals and in metachromatic leukodystrophy |
| Q47827687 | Importance of the glycosylation and polyadenylation variants in metachromatic leukodystrophy pseudodeficiency phenotype. |
| Q68328378 | Improved synthesis of [1-14C]acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: usefulness of radioscanning |
| Q57206810 | Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy |
| Q47343258 | In vitro correction of ARSA deficiency in human skin fibroblasts from metachromatic leukodystrophy patients after treatment with microencapsulated recombinant cells |
| Q72213989 | In vivo and in vitro studies of metachromatic leukodystrophy |
| Q45875261 | In vivo gene therapy of metachromatic leukodystrophy by lentiviral vectors: correction of neuropathology and protection against learning impairments in affected mice |
| Q48496615 | Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report |
| Q80866231 | Increasing sulfatide synthesis in myelin-forming cells of arylsulfatase A-deficient mice causes demyelination and neurological symptoms reminiscent of human metachromatic leukodystrophy |
| Q70135493 | Infantile metachromatic leukodystrophy |
| Q80230057 | Infantile metachromatic leukodystrophy (MLD) in a compound heterozygote for the c.459 + 1G > A mutation and a complete deletion of the ARSA gene |
| Q48500488 | Infantile metachromatic leukodystrophy in an 18 month old girl |
| Q71156152 | Infantile metachromatic leukodystrophy: deficiency of arylsulfatase A in skin fibroblasts: heterozygote detection |
| Q37697854 | Insertion in the mRNA of a metachromatic leukodystrophy patient with sphingolipid activator protein-1 deficiency |
| Q91617869 | Insights into the natural history of metachromatic leukodystrophy from interviews with caregivers |
| Q83145359 | Intestinal involvement in metachromatic leukodystrophy |
| Q41250875 | Intracerebral Gene Therapy Using AAVrh.10-hARSA Recombinant Vector to Treat Patients with Early-Onset Forms of Metachromatic Leukodystrophy: Preclinical Feasibility and Safety Assessments in Nonhuman Primates |
| Q83941327 | Intracerebroventricular enzyme infusion corrects central nervous system pathology and dysfunction in a mouse model of metachromatic leukodystrophy |
| Q88879041 | Intrathecal baclofen in metachromatic leukodystrophy |
| Q104492167 | Intravenous arylsulfatase A in metachromatic leukodystrophy: a phase 1/2 study |
| Q71842697 | Involvement of the gallbladder in childhood metachromatic leukodystrophy: ultrasonographic findings |
| Q46707406 | Isolated peripheral neuropathy in atypical metachromatic leukodystrophy: a recurrent mutation. |
| Q37690419 | Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases |
| Q80790852 | Juvenile metachromatic leukodystrophy |
| Q84918600 | Juvenile metachromatic leukodystrophy 10 years post transplant compared with a non-transplanted cohort |
| Q82298578 | Juvenile metachromatic leukodystrophy in a boy with epilepsy |
| Q68810409 | Juvenile metachromatic leukodystrophy: deficiency of an arylsufatase A component |
| Q48807174 | Juvenile metachromatic leukodystrophy: evoked potentials and computed tomography |
| Q71754984 | Juvenile metachromatic leukodystrophy: neurological outcome two years after bone marrow transplantation |
| Q36749075 | Juvenile metachromatic leukodystrophy: understanding the disease and implications for nursing care |
| Q39253806 | Juvenile-onset metachromatic leukodystrophy: Biochemical and electrophysiologic studies |
| Q87570587 | Kidney transplantation from a deceased donor with metachromatic leukodystrophy |
| Q92432346 | LATE INFANTILE TYPE OF METACHROMATIC LEUKODYSTROPHY CAUSED BY NOVEL COMBINATION OF HETEROZYGOUS ARSA MUTATIONS |
| Q101345699 | LC-MS/MS assays to quantify sulfatides and lysosulfatide in cerebrospinal fluid of metachromatic leukodystrophy patients |
| Q30443114 | Language and cognition in children with metachromatic leukodystrophy: onset and natural course in a nationwide cohort |
| Q90994034 | Late Infantile Metachromatic Leukodystrophy Due to Novel Pathogenic Variants in the PSAP Gene |
| Q43968752 | Late infantile form metachromatic leukodystrophy: report of one case |
| Q72550856 | Late infantile metachromatic leukodystrophy in Israel |
| Q36263234 | Late infantile metachromatic leukodystrophy: Clinical manifestations of five Taiwanese patients and Genetic features in Asia |
| Q73010178 | Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele |
| Q70894682 | Late juvenile metachromatic leukodystrophy treated with bone marrow transplantation; a 4-year follow-up study |
| Q48895862 | Late-Onset Metachromatic Leukodystrophy with Early Onset Dementia Associated with a Novel Missense Mutation in the Arylsulfatase A Gene |
| Q49291722 | Late-onset metachromatic leukodystrophy clinically presenting as isolated peripheral neuropathy: compound heterozygosity for the IVS2+1G-->A mutation and a newly identified missense mutation (Thr408Ile) in a Spanish family |
| Q52103085 | Late-onset metachromatic leukodystrophy: Diagnostic problems elucidated by a case report |
| Q48423260 | Late-onset metachromatic leukodystrophy: genotype strongly influences phenotype |
| Q28182575 | Late-onset metachromatic leukodystrophy: molecular pathology in two siblings |
| Q34459397 | Lentivector integration sites in ependymal cells from a model of metachromatic leukodystrophy: non-B DNA as a new factor influencing integration |
| Q39691004 | Lentiviral haemopoietic stem-cell gene therapy in early-onset metachromatic leukodystrophy: an ad-hoc analysis of a non-randomised, open-label, phase 1/2 trial. |
| Q67783306 | Letter: Prenatal metachromatic leukodystrophy |
| Q72450255 | Leukocyte Sulfatidase for the Reliable Diagnosis of Metachromatic Leukodystrophy |
| Q40657753 | Long-term Outcome of Allogeneic Hematopoietic Stem Cell Transplantation in Patients With Juvenile Metachromatic Leukodystrophy Compared With Nontransplanted Control Patients |
| Q82800077 | Long-term neuroimaging follow-up on an asymptomatic juvenile metachromatic leukodystrophy patient after hematopoietic stem cell transplantation: evidence of myelin recovery and ongoing brain maturation |
| Q35985930 | Long-term outcomes after allogeneic hematopoietic stem cell transplantation for metachromatic leukodystrophy: the largest single-institution cohort report. |
| Q43485481 | Longitudinal neurophysiologic studies in a patient with metachromatic leukodystrophy following bone marrow transplantation |
| Q68299661 | Low arylsulphatase A activity and choreoathetotic syndrome in three siblings: differentiation of pseudodeficiency from metachromatic leukodystrophy |
| Q51280749 | Low sulfatase activities in metachromatic leukodystrophy (MLD). A controlled study of enzymes in 9 living and 4 autopsied patients with MLD |
| Q69966127 | Lysosulfatide (galactosylsphingosine-3-O-sulfate) from metachromatic leukodystrophy and normal human brain |
| Q68158133 | Lysosulfatide (sulfogalactosylsphingosine) accumulation in tissues from patients with metachromatic leukodystrophy |
| Q78345928 | METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS. IV. LOW SULFATASE ACTIVITY IN THE URINE OF NINE LIVING PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD) |
| Q50170446 | Massive hemobilia and papillomatosis of the gallbladder in metachromatic leukodystrophy: a life-threatening condition |
| Q73540136 | Measurements from normal umbilical cord blood of four lysosomal enzymatic activities: alpha-L-iduronidase (Hurler), galactocerebrosidase (globoid cell leukodystrophy), arylsulfatase A (metachromatic leukodystrophy), arylsulfatase B (Maroteaux-Lamy) |
| Q40162750 | Metabolic correction in oligodendrocytes derived from metachromatic leukodystrophy mouse model by using encapsulated recombinant myoblasts |
| Q40510783 | Metabolism of cerebroside sulfate and subcellular distribution of its metabolites in cultured skin fibroblasts from controls, metachromatic leukodystrophy, and globoid cell leukodystrophy |
| Q44736843 | Metabolism of cerebroside sulphate and subcellular distribution of its metabolites in cultured skin fibroblasts derived from controls, metachromatic leukodystrophy, globoid cell leukodystrophy and Farber disease |
| Q72504676 | Metabolism of fatty acid-labeled cerebroside sulfate in cultured cells from controls and metachromatic leukodystrophy patients. Use in the prenatal identification of a false positive fetus |
| Q38629349 | Metachromatic Leukodystrophy (MLD): a Pakistani Family with Novel ARSA Gene Mutation. |
| Q35779319 | Metachromatic Leukodystrophy and Limb Hypertrophy |
| Q40212756 | Metachromatic Leukodystrophy: A Comparative Study of the Ultrastructural Findings in the Peripheral Nervous System of Three Cases, One of the Late Infantile, One of the Juvenile and one of the Adult Form of the Disease |
| Q47704275 | Metachromatic Leukodystrophy: An Assessment of Disease Burden |
| Q72603159 | Metachromatic Leukodystrophy: Clinical and Enzymatic Parameters |
| Q44609251 | Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood |
| Q102069157 | Metachromatic Leukodystrophy: Diagnosis, Modeling, and Treatment Approaches |
| Q35565446 | Metachromatic Leukodystrophy: Recent Research Developments |
| Q64044882 | Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis? |
| Q95788562 | Metachromatic Leukodystrophy: Too Frequent (Mis)Diagnosis?-Reply |
| Q43621695 | Metachromatic form of diffuse cerebral sclerosis. V. The nature and significance of low sulfatase activity: a controlled study of brain, liver and kidney in four patients with metachromatic leukodystrophy (MLD). |
| Q72764118 | Metachromatic form of diffuse cerebral sclerosis. VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine |
| Q41851353 | Metachromatic leukodystrophy (MLD) in hospitalized adult schizophrenic patients resistant to drug treatment |
| Q69611429 | Metachromatic leukodystrophy (MLD), late infantile form |
| Q44368047 | Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis |
| Q71749833 | Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD |
| Q51232939 | Metachromatic leukodystrophy (MLD). VII. Elevated sulfated acid polysaccharide levels in urine and postmortem tissues. |
| Q93833071 | Metachromatic leukodystrophy (MLD). X. Immunological studies of the abnormal sulfatase A |
| Q48800463 | Metachromatic leukodystrophy (MLD). XV. Adult MLD with focal lesions by computed tomography |
| Q70966596 | Metachromatic leukodystrophy (pathogenesis and pathological anatomy) |
| Q51214940 | Metachromatic leukodystrophy (sulfatide lipidoses) cultured in vitro. |
| Q45880285 | Metachromatic leukodystrophy - mutation analysis provides further evidence of genotype-phenotype correlation |
| Q52021153 | Metachromatic leukodystrophy among southern Alaskan Eskimos: molecular and genetic studies. |
| Q39308040 | Metachromatic leukodystrophy and age: a comparative study of clinical, enzymological and ultrastructural findings |
| Q39168121 | Metachromatic leukodystrophy and arylsulphatase A: relations and discrepancies |
| Q72337155 | Metachromatic leukodystrophy and coincidental finding of papillomatosis of the gallbladder. A case report |
| Q50176072 | Metachromatic leukodystrophy and its effects on the gallbladder: a case report |
| Q67380054 | Metachromatic leukodystrophy and multiple sulfatase deficiency |
| Q33957102 | Metachromatic leukodystrophy and nonverbal learning disability: neuropsychological and neuroradiological findings in heterozygous carriers |
| Q41448241 | Metachromatic leukodystrophy and pseudoarylsulfatase A deficiency in a Danish family |
| Q92847641 | Metachromatic leukodystrophy and transplantation: remyelination, no cross-correction |
| Q72532034 | Metachromatic leukodystrophy caused by a partial cerebroside sulfatase |
| Q97427555 | Metachromatic leukodystrophy genotypes in The Netherlands reveal novel pathogenic ARSA variants in non-Caucasian patients |
| Q52061344 | Metachromatic leukodystrophy in Greece: observations on 4 cases. |
| Q73318998 | Metachromatic leukodystrophy in adult patient initially diagnosed as multiple sclerosis |
| Q39214415 | Metachromatic leukodystrophy in childhood. Description of a case |
| Q72156118 | Metachromatic leukodystrophy in children |
| Q72449477 | Metachromatic leukodystrophy in the Navajo Indian population: a splice site mutation in intron 4 of the arylsulfatase A gene |
| Q53480960 | Metachromatic leukodystrophy in the Navajo: fallout of the American-Indian wars of the nineteenth century. |
| Q45175592 | Metachromatic leukodystrophy in the adult: A biochemical study |
| Q34707083 | Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes |
| Q93604782 | Metachromatic leukodystrophy manifesting as a schizophrenic disorder: computed tomographic correlation |
| Q48531056 | Metachromatic leukodystrophy presenting as bipolar disorder |
| Q34450570 | Metachromatic leukodystrophy simulating schizophrenia-like psychosis |
| Q104798829 | Metachromatic leukodystrophy with late adult-onset: diagnostic clues and differences from other genetic leukoencephalopathies with dementia |
| Q39283983 | Metachromatic leukodystrophy without arylsulfatase A deficiency |
| Q80579413 | Metachromatic leukodystrophy without arylsulfatase A deficiency: a new case of saposin-B deficiency |
| Q51228412 | Metachromatic leukodystrophy, an electron microscopic study. |
| Q67965008 | Metachromatic leukodystrophy. Report of siblings with the juvenile type of metachromatic leukodystrophy |
| Q71842023 | Metachromatic leukodystrophy: A case report of a child with an equinus deformity |
| Q42365503 | Metachromatic leukodystrophy: Biochemical characterization of two (p.307Glu→Lys, p.318Trp→Cys) arylsulfatase A mutations |
| Q92604597 | Metachromatic leukodystrophy: Characterization of two (p.Leu433Val, p.Gly449Arg) arylsulfatase A mutations |
| Q44297701 | Metachromatic leukodystrophy: Comparison of early-and late-onset forms |
| Q69590879 | Metachromatic leukodystrophy: Detection in serum |
| Q35634674 | Metachromatic leukodystrophy: Disease spectrum and approaches for treatment |
| Q57899109 | Metachromatic leukodystrophy: On an atypical case |
| Q48071022 | Metachromatic leukodystrophy: a 12-bp deletion in exon 2 of the arylsulfatase A gene in a late infantile variant |
| Q34615254 | Metachromatic leukodystrophy: a case of triplets with the late infantile variant and a systematic review of the literature |
| Q30819480 | Metachromatic leukodystrophy: a model for the study of psychosis |
| Q72675317 | Metachromatic leukodystrophy: a nonsense mutation (Q486X) in the arylsulphatase A (ARSA) gene |
| Q73025667 | Metachromatic leukodystrophy: a novel mutation (c237delC) and extension of the haplotype associated with the P426L mutation |
| Q35006108 | Metachromatic leukodystrophy: a scoring system for brain MR imaging observations |
| Q69521843 | Metachromatic leukodystrophy: ambiguity of heterozygote identification |
| Q54388475 | Metachromatic leukodystrophy: an exceptional cause of dementia in the adult |
| Q34870734 | Metachromatic leukodystrophy: an overview of current and prospective treatments |
| Q36450898 | Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures |
| Q76431490 | Metachromatic leukodystrophy: clinical, histochemical, and cerebrospinal fluid abnormalities |
| Q33628159 | Metachromatic leukodystrophy: conduct disorder progressing to dementia |
| Q58197698 | Metachromatic leukodystrophy: consequences of sulphatide accumulation |
| Q35677922 | Metachromatic leukodystrophy: consequences of sulphatide accumulation. |
| Q30722225 | Metachromatic leukodystrophy: diffusion MR imaging findings. |
| Q40088069 | Metachromatic leukodystrophy: genetics, pathogenesis and therapeutic options |
| Q68033499 | Metachromatic leukodystrophy: heterozygosity and psychopathology |
| Q73196763 | Metachromatic leukodystrophy: identification of the first deletion in exon 1 and of nine novel point mutations in the arylsulfatase A gene |
| Q51221636 | Metachromatic leukodystrophy: isolation and chemical characterization of metachromatic granules. |
| Q81920285 | Metachromatic leukodystrophy: magnetic resonance imaging (diffusion weighted image--DWI) |
| Q77202748 | Metachromatic leukodystrophy: molecular genetics and an animal model |
| Q72226813 | Metachromatic leukodystrophy: multiple nonfunctional and pseudodeficiency alleles in a pedigree: problems with diagnosis and counseling |
| Q49136026 | Metachromatic leukodystrophy: natural course of cerebral MRI changes in relation to clinical course |
| Q101567037 | Metachromatic leukodystrophy: pediatric presentation and the challenges of early diagnosis |
| Q69933183 | Metachromatic leukodystrophy: report of four cases |
| Q77920303 | Metachromatic leukodystrophy: subtype genotype/phenotype correlations and identification of novel missense mutations (P148L and P191T) causing the juvenile-onset disease |
| Q35219927 | Metachromatic leukodystrophy: two sides of a coin |
| Q48579298 | Metachromatic reaction of pseudoisocyanine with sulfatides in metachromatic leukodystrophy (MLD). I. Technique of histochemical staining |
| Q93068866 | Microglia damage precedes major myelin breakdown in X-linked adrenoleukodystrophy and metachromatic leukodystrophy |
| Q48090985 | Missense mutations in the arylsulphatase A genes of metachromatic leukodystrophy patients |
| Q68299967 | Molecular Basis of Metachromatic Leukodystrophy |
| Q46435862 | Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles |
| Q50279984 | Molecular and phenotypic characteristics of metachromatic leukodystrophy patients from Poland. |
| Q54396688 | Molecular and structural analysis of metachromatic leukodystrophy patients in Indian population. |
| Q59697417 | Molecular bases of metachromatic leukodystrophy in Polish patients |
| Q28240698 | Molecular basis of different forms of metachromatic leukodystrophy |
| Q39191794 | Molecular basis of late infantile metachromatic leukodystrophy in the Habbanite Jews |
| Q42558848 | Molecular characteristics in Japanese patients with lipidosis: novel mutations in metachromatic leukodystrophy and Gaucher disease |
| Q74586402 | Molecular genetic characterization of two metachromatic leukodystrophy patients who carry the T799G mutation and show different phenotypes; description of a novel null-type mutation |
| Q28307575 | Molecular genetics of metachromatic leukodystrophy |
| Q72823011 | Molecular genetics of metachromatic leukodystrophy |
| Q44225559 | Motor and psycho-cognitive clinical types in adult metachromatic leukodystrophy: genotype/phenotype relationships? |
| Q85565938 | Multidetector CT diagnosis of massive hemobilia due to gallbladder polyposis in a child with metachromatic leukodystrophy |
| Q66724893 | Multifocal slowing of nerve conduction in metachromatic leukodystrophy |
| Q80480216 | Multiple cranial nerve enhancement: a new MR imaging finding in metachromatic leukodystrophy |
| Q39240375 | Multiple molecular forms of arylsulfatase A in different forms of metachromatic leukodystrophy (MLD) |
| Q41762644 | Multiple mutations are responsible for the high frequency of metachromatic leukodystrophy in a small geographic area |
| Q46454546 | Multipotential neural precursors transplanted into the metachromatic leukodystrophy brain fail to generate oligodendrocytes but contribute to limit brain dysfunction |
| Q77213908 | Mutations associated with very late-onset metachromatic leukodystrophy |
| Q81157933 | Mutations c.459+1G>A and p.P426L in the ARSA gene: prevalence in metachromatic leukodystrophy patients from European countries |
| Q72225235 | Mutations in the arylsulfatase A gene of Japanese patients with metachromatic leukodystrophy |
| Q24678222 | Mutations in the arylsulfatase A pseudodeficiency allele causing metachromatic leukodystrophy |
| Q40418478 | Neurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome. |
| Q70750410 | Neuronal depletion of cerebellum in late infantile metachromatic leulcodystrophy |
| Q64949806 | Neuropathological and enzymatic studies in a case of adult form of metachromatic leukodystrophy with very late onset of clinical symptoms. |
| Q57418145 | Neuropathy of metachromatic leukodystrophy: Improvement with immunomodulation |
| Q73262996 | Neurophysiology and MRI in late-infantile metachromatic leukodystrophy |
| Q54643555 | New sites of ocular involvement in late-infantile metachromatic leukodystrophy revealed by histopathologic studies. |
| Q104691985 | Novel disease-causing variants in a cohort of Iranian patients with metachromatic leukodystrophy and in silico analysis of their pathogenicity |
| Q63301844 | Novel mutations associated with metachromatic leukodystrophy: Phenotype and expression studies in nine Czech and Slovak patients |
| Q75184760 | Novel mutations in arylsulfatase A gene in three Ukrainian families with metachromatic leukodystrophy |
| Q83296342 | Novel mutations in the arylsulfatase A gene in eight Italian families with metachromatic leukodystrophy |
| Q67761945 | Observations on the course of juvenile metachromatic leukodystrophy |
| Q70592810 | Ocular features of multiple sulfatase deficiency and a new variant of metachromatic leukodystrophy |
| Q72682229 | Ocular lesions of metachromatic leukodystrophy |
| Q69374997 | On a rare atypical form of metachromatic leukodystrophy (MLD): "neurological non-mld patients with low levels of arylsulphatase A". Description of two cases |
| Q78860328 | On metachromatic leukodystrophy (Scholz type) |
| Q103823588 | Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses |
| Q70997834 | Oral findings in metachromatic leukodystrophy |
| Q38549684 | Outcome of Early Juvenile Onset Metachromatic Leukodystrophy After Unrelated Cord Blood Transplantation: A Case Series and Review of the Literature. |
| Q45867302 | Overexpression of arylsulfatase A gene in fibroblasts from metachromatic leukodystrophy patients does not induce a new phenotype |
| Q37117266 | PERIPHERAL NERVE CONDUCTION IN METACHROMATIC LEUKODYSTROPHY (SULPHATIDE LIPIDOSIS). |
| Q69801414 | Papillomatosis of the gallbladder associated with metachromatic leukodystrophy |
| Q48429778 | Partial Seizures in Two Cases of Metachromatic Leukodystrophy: Electrophysiologic and Neuroradiologic Findings |
| Q45410300 | Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer |
| Q39199669 | Pathophysiology of sulfatide metabolism in metachromatic leukodystrophy |
| Q70077408 | Peripheral nerve glycolipids in metachromatic leukodystrophy |
| Q56900094 | Peripheral neuropathy as the sole initial finding in three children with infantile metachromatic leukodystrophy |
| Q91101997 | Peripheral neuropathy in metachromatic leukodystrophy: current status and future perspective |
| Q92198380 | Pharmacokinetic Modeling of Intrathecally Administered Recombinant Human Arylsulfatase A (TAK-611) in Children With Metachromatic Leukodystrophy |
| Q30530571 | Phenotype of arylsulfatase A-deficient mice: relationship to human metachromatic leukodystrophy |
| Q71782651 | Polymorphism of metachromatic leukodystrophy |
| Q33939571 | Population carrier rates of pathogenic ARSA gene mutations: is metachromatic leukodystrophy underdiagnosed? |
| Q74845885 | Practical suggestions in diagnosing metachromatic leukodystrophy in probands and in testing family members |
| Q39166208 | Prenatal Diagnosis of Metachromatic Leukodystrophy by Electrophoretic and Immunologic Techniques |
| Q72425940 | Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test |
| Q42241423 | Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis by amniotic fluid and its confirmation |
| Q71646936 | Prenatal diagnosis of metachromatic leukodystrophy: a diagnosis with amniotic fluid by DEAE-Sepharose column chromatography and its confirmation by kidney lipid analysis |
| Q72562924 | Prenatal exclusion of metachromatic leukodystrophy by estimation of arylsulphatase a activity in chorion and cultured amniotic fluid cells |
| Q72551186 | Presymptomatic diagnosis: metachromatic leukodystrophy or pseudo arylsulphatase A deficiency? |
| Q72817537 | Presymptomatic late-infantile metachromatic leukodystrophy treated with bone marrow transplantation |
| Q74242230 | Prevalence of arylsulfatase A pseudodeficiency allele in metachromatic leukodystrophy patients from Poland |
| Q54624598 | Prevalence of arylsulphatase A mutations in 11 Japanese patients with metachromatic leukodystrophy: identification of two novel mutations. |
| Q72213548 | Prevalence of common mutations in the arylsulphatase A gene in metachromatic leukodystrophy patients diagnosed in Britain |
| Q68186249 | Prevention of deterioration in metachromatic leukodystrophy by bone marrow transplantation |
| Q70005161 | Primary enzyme immunoassay (PEIA): studies of the mutant enzyme in metachromatic leukodystrophy (primary enzyme immunoassay of arylsulfatase-A) |
| Q72466388 | Problems in the diagnosis of metachromatic leukodystrophy by arylsulfatase-A assay in white blood cells. Genetic study of normal enzyme values in 64 mother and child pairs (author's transl) |
| Q55417076 | Prosaposin deficiency and saposin B deficiency (activator-deficient metachromatic leukodystrophy): report on two patients detected by analysis of urinary sphingolipids and carrying novel PSAP gene mutations. |
| Q37509878 | Pseudo arylsulfatase-A deficiency in healthy individuals: genetic and biochemical relationship to metachromatic leukodystrophy |
| Q70556252 | Psychopathology in metachromatic leukodystrophy |
| Q70550522 | Qualitative and quantitative differences in sulfatase A which distinguish different forms of classical metachromatic leukodystrophy (MLD) |
| Q71687485 | Qualitative and quantitative differences in sulfatase A which distinguish the different forms of classical metachromatic leukodystrophy (MLD) |
| Q33690403 | Quantification of sulfatides in dried blood and urine spots from metachromatic leukodystrophy patients by liquid chromatography/electrospray tandem mass spectrometry |
| Q48007823 | Quantitative MR spectroscopic imaging in metachromatic leukodystrophy: value for prognosis and treatment |
| Q72689411 | Rapid detection of common metachromatic leukodystrophy mutations by restriction analysis of arylsulfatase A gene amplimers |
| Q72673974 | Rapid detection of common mutation of arylsulfatase A in metachromatic leukodystrophy by polymerase chain reaction with a mismatched primer |
| Q73875756 | Recurrent seizures in metachromatic leukodystrophy |
| Q34586574 | Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report |
| Q45044595 | Repeated upper gastrointestinal hemorrhage caused by metachromatic leukodystrophy of the gall bladder |
| Q81198029 | Reply to: Reduced intensity conditioning haematopoietic stem cell transplantation with mesenchymal stromal cells infusion for the treatment of metachromatic leukodystrophy: a case report. Haematologica 2008; 93:e11-13 |
| Q40816094 | Research update on lysosomal disorders with special emphasis on metachromatic leukodystrophy and Krabbe disease. |
| Q104678815 | Safety of Direct Intraparenchymal AAVrh.10-mediated CNS Gene Therapy for Metachromatic Leukodystrophy |
| Q98463099 | Safety of intrathecal delivery of recombinant human arylsulfatase A in children with metachromatic leukodystrophy: Results from a phase 1/2 clinical trial |
| Q91753175 | Saposin B deficiency as a cause of adult-onset metachromatic leukodystrophy |
| Q91993321 | Saposin B-Deficient Metachromatic Leukodystrophy Mimicking Acute Flaccid Paralysis |
| Q79706721 | Schwann cell alterations in metachromatic leukodystrophy: preliminary phase and electron microscopic observations |
| Q48330485 | Sedation for children with metachromatic leukodystrophy undergoing MRI. |
| Q74315021 | Seizures as a presenting feature of late onset metachromatic leukodystrophy |
| Q72564373 | Serial MR after bone marrow transplantation in two patients with metachromatic leukodystrophy |
| Q70515903 | Siblings with the Austin variant of metachromatic leukodystrophy multiple sulfatidosis |
| Q72656130 | Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations |
| Q77766198 | Slow progression of juvenile metachromatic leukodystrophy 6 years after bone marrow transplantation |
| Q70601017 | Somatic cell hybridization studies on the genetic regulation and allelic mutations in metachromatic leukodystrophy |
| Q79747180 | Somatic intragenic recombination of the arylsulfatase A gene in a metachromatic leukodystrophy patient |
| Q91187723 | Spectrum of ARSA variations in Asian Indian patients with Arylsulfatase A deficient metachromatic leukodystrophy |
| Q80380429 | Spinal cord and cauda equina MRI findings in metachromatic leukodystrophy: case report |
| Q51736106 | Stabilization of juvenile metachromatic leukodystrophy after bone marrow transplantation: a 13-year follow-up. |
| Q39337437 | Staining of sulphatides in metachromatic leukodystrophy with Alcian blue at high salt concentrations |
| Q48561366 | Structure and composition of sulfatides isolated from livers of patients with metachromatic leukodystrophy: galactosyl sulfatide and lactosyl sulfatide |
| Q39949726 | Studies in metachromatic leukodystrophy XI. Therapeutic considerations, 1972 |
| Q69875088 | Studies in metachromatic leukodystrophy: XV. Purification of normal and mutant arylsulfatase A from human liver |
| Q93817155 | Studies on Cerebral Lipidosis Enzymatic Diagnosis of Metachromatic Leukodystrophy |
| Q39580320 | Successful immunocytochemical localization of myelin components in paraffin sections of human nervous tissue with preliminary observations on multiple sclerosis and metachromatic leukodystrophy lesions |
| Q77414905 | Successful paroxetine treatment of major depression in an adult form of metachromatic leukodystrophy with cognitive disturbances |
| Q43527733 | Successful transduction of oligodendrocytes and restoration of arylsulfatase A deficiency in metachromatic leukodystrophy fibroblasts using an adenovirus vector |
| Q41948861 | Successful treatment of metachromatic leukodystrophy using bone marrow transplantation of HoxB4 overexpressing cells |
| Q72550933 | Sulfate metabolism in metachromatic leukodystrophy |
| Q36532463 | Sulfatide Analysis by Mass Spectrometry for Screening of Metachromatic Leukodystrophy in Dried Blood and Urine Samples |
| Q67315136 | Sulfatide excreting heterozygous carrier of juvenile metachromatic leukodystrophy or asymptomatic patient of adult metachromatic leukodystrophy |
| Q35619201 | Sulfatide levels correlate with severity of neuropathy in metachromatic leukodystrophy |
| Q72357844 | Sulfatides and demyelination. Subcellular localization in metachromatic leukodystrophy |
| Q71106507 | Sulfatides in prenatal metachromatic leukodystrophy |
| Q46916164 | Sulfogalactosylceramides in motor and psycho-cognitive adult metachromatic leukodystrophy: relations between clinical, biochemical analysis and molecular aspects |
| Q69803644 | Sulfogalactosylsphingosine sulfatase. Characteristics of the enzyme and its deficiency in metachromatic leukodystrophy in human cultured skin fibroblasts |
| Q102329817 | T2-Pseudonormalization and Microstructural Characterization in Advanced Stages of Late-infantile Metachromatic Leukodystrophy |
| Q90974894 | Teaching NeuroImages: A rare case of metachromatic leukodystrophy with multiple bilateral cranial nerve enhancement |
| Q72520768 | The AB-variant of metachromatic leukodystrophy (postulated activator protein deficiency). Light and electron microscopic findings in a sural nerve biopsy |
| Q36080533 | The clinical features and diagnosis of Metachromatic leukodystrophy: A case series of Iranian Pediatric Patients. |
| Q52060400 | The differential diagnosis of adult onset metachromatic leukodystrophy and early onset familial Alzheimer disease in an Alzheimer clinic population. |
| Q36671985 | The future for treatment by bone marrow transplantation for adrenoleukodystrophy, metachromatic leukodystrophy, globoid cell leukodystrophy and Hurler syndrome |
| Q50178320 | The gallbladder in metachromatic leukodystrophy |
| Q28288870 | The mechanism for a 33-nucleotide insertion in mRNA causing sphingolipid activator protein (SAP-1)-deficient metachromatic leukodystrophy |
| Q91149863 | Three novel variants in the arylsulfatase A (ARSA) gene in patients with metachromatic leukodystrophy (MLD) |
| Q71725400 | Three-dimensional brain visualization for metachromatic leukodystrophy |
| Q99343882 | Toward Reference Intervals of ARSA Activity in the Cerebrospinal Fluid: Implication for the Clinical Practice of Metachromatic Leukodystrophy |
| Q48546505 | Toward a better understanding of brain lesions during metachromatic leukodystrophy evolution |
| Q102211175 | Toward newborn screening of metachromatic leukodystrophy: results from analysis of over 27,000 newborn dried blood spots |
| Q45889444 | Transduced fibroblasts and metachromatic leukodystrophy lymphocytes transfer arylsulfatase A to myelinating glia and deficient cells in vitro |
| Q61769085 | Treatment of Late Infantile Metachromatic Leukodystrophy by Bone Marrow Transplantation |
| Q54323092 | Treatment of Metachromatic Leukodystrophy in Fibroblasts by Enzyme Replacement |
| Q102335466 | Tumefactive inflammatory lesions in juvenile metachromatic leukodystrophy |
| Q24673781 | Two new arylsulfatase A (ARSA) mutations in a juvenile metachromatic leukodystrophy (MLD) patient |
| Q73893357 | Two new polymorphisms in the arylsulfatase A gene and their haplotype associations with normal, metachromatic leukodystrophy and pseudodeficiency alleles |
| Q30425674 | Two novel mutations in a Japanese patient with the late-infantile form of metachromatic leukodystrophy |
| Q74127891 | Two novel mutations in the arylsulfatase A gene associated with juvenile (R390Q) and adult onset (H397Y) metachromatic leukodystrophy |
| Q64044047 | Two siblings with metachromatic leukodystrophy caused by a novel identified homozygous mutation in the ARSA gene |
| Q70606211 | Ultrastructural study of 2 cases of metachromatic leukodystrophy |
| Q71564629 | Ultrastructural study of the sural nerve in metachromatic leukodystrophy |
| Q49143021 | Ultrastructure of central nervous system lesions in metachromatic leukodystrophy with special reference to morphogenesis |
| Q34645266 | Unrelated umbilical cord blood transplant for juvenile metachromatic leukodystrophy: A 5-year follow-up in three affected siblings |
| Q77224100 | Unusual gallbladder findings in two brothers with metachromatic leukodystrophy |
| Q49595032 | Use of Defibrotide to help prevent post-transplant endothelial injury in a genetically predisposed infant with metachromatic leukodystrophy undergoing hematopoietic stem cell gene therapy |
| Q61856312 | Variable onset of metachromatic leukodystrophy in a Vietnamese family |
| Q35202014 | Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family |
| Q39675193 | Vitamin k antagonist warfarin for palliative treatment of metachromatic leukodystrophy, a compassionate study of four subjects |
| Q30996651 | Volumetric MRI data correlate to disease severity in metachromatic leukodystrophy |
| Q48464450 | White matter dysfunction and its neuropsychological correlates: a longitudinal study of a case of metachromatic leukodystrophy treated with bone marrow transplant |
| Q55059779 | Whole-exome sequencing identifies compound heterozygous mutations in ARSA of two siblings presented with atypical onset of metachromatic leukodystrophy from a Chinese pedigree. |
| Q73694439 | [2 familial cases of metachromatic leukodystrophy of late onset] |
| Q70123685 | [A case of metachromatic leukodystrophy in an adult] |
| Q66942912 | [A case of metachromatic leukodystrophy] |
| Q72334988 | [Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations] |
| Q70066396 | [Adult metachromatic leukodystrophy] |
| Q72239184 | [Amaurotic idiocy connected with metachromatic leukodystrophy: transitional form or combination? Electron microscopic and histochemical finding] |
| Q92548442 | [Analysis of ARSA gene variant in an infant with late infantile metachromatic leukodystrophy] |
| Q70097169 | [Atypical forms of metachromatic leukodystrophy] |
| Q72173105 | [Case of metachromatic leukodystrophy] |
| Q68344129 | [Characterization of a new type of metachromatic leukodystrophy] |
| Q68586033 | [Clinical and electrophysiologic characteristics of peripheral nerve disorders in metachromatic leukodystrophy (7 cases)] |
| Q69657083 | [Comments on the contribution by S. Schäffer, G. Oepen and D. Ott. Adult form of metachromatic leukodystrophy with predominantly psychotic manifestations] |
| Q69878083 | [Description of a case of metachromatic leukodystrophy] |
| Q69899037 | [Diagnostic problems in children with metachromatic leukodystrophy] |
| Q84900301 | [Diagnostic strategy of metachromatic leukodystrophy in Tunisia] |
| Q71764995 | [Diagnostic value of the determination of intraleukocytic arylsulfatase for the early detection of metachromatic leukodystrophy] |
| Q71338448 | [Early symptoms and diagnosis of metachromatic leukodystrophy in childhood] |
| Q72187521 | [Experimental test with a copper chelating agent (sodium diethyldithiocarbamate) in relation to pathogenetic problems of metachromatic leukodystrophy and swayback] |
| Q79631866 | [Familial infantile metachromatic leukodystrophy (Scholz-Greenfield disease). Sulfatide lipidoses.] |
| Q74569635 | [Familial metachromatic leukodystrophy as a cause of psychotic manifestations in young adults] |
| Q80473617 | [Frontotemporal dementia in metachromatic leukodystrophy] |
| Q89605100 | [Genetic analysis of a patient with late infantile metachromatic leukodystrophy] |
| Q72674383 | [Genomic analysis of Japanese patients with adult-type metachromatic leukodystrophy] |
| Q77412044 | [Homicide and hebephrenia-like syndrome in metachromatic leukodystrophy] |
| Q67233167 | [Infantile metachromatic leukodystrophy (4 cases)] |
| Q69853790 | [Infantile metachromatic leukodystrophy in twins] |
| Q91084997 | [Late infantile metachromatic leukodystrophy: case report] |
| Q67870424 | [Later onset metachromatic leukodystrophy diagnosed by nerve biopsy] |
| Q79757822 | [Lysosomal diseases [metachromatic leukodystrophy (adult), Krabbe's disease (adult)]] |
| Q95784870 | [Metachromatic Leukodystrophy (MLD): MRI findings] |
| Q70939709 | [Metachromatic leukodystrophy (MLD) and Multiple sulphatase deficiency (MSD)] |
| Q69708816 | [Metachromatic leukodystrophy (Scholz-Greenfield disease) associated with Lowe's syndrome with congenital glaucoma without eye enlargement. Clinical, histological and genetic study (literature review concerning these diseases). Ultrastructure of a p |
| Q54405603 | [Metachromatic leukodystrophy (sulfatide lipidosis) in adults: intravital diagnosis in two patients with clinical symptoms of presenile atrophy of the brain]. |
| Q74256447 | [Metachromatic leukodystrophy symptoms in an adult. Case report] |
| Q93594099 | [Metachromatic leukodystrophy with a familial incidence; prenatal diagnosis] |
| Q50942766 | [Metachromatic leukodystrophy: report of 2 cases with histochemistry of nerves and muscles] |
| Q72234903 | [Molecular analysis of Japanese patients with metachromatic leukodystrophy] |
| Q78546251 | [Molecular screening of the major mutations in the ARSA gene in patients with metachromatic leukodystrophy] |
| Q69884136 | [Mood disorder and metachromatic leukodystrophy in the adult, apropos of a presumed case] |
| Q72027981 | [Neuropathy in adult metachromatic leukodystrophy] |
| Q54101195 | [Ocular ultrastructure in a case of juvenile metachromatic leukodystrophy] |
| Q69858229 | [Prenatal diagnosis of metachromatic leukodystrophy] |
| Q69808942 | [Psychic abnormality and organic disease: the example of metachromatic leukodystrophy] |
| Q68015865 | [The adult form of metachromatic leukodystrophy with a predominantly psychotic manifestation] |
| Q73988088 | [Two siblings with adult-type metachromatic leukodystrophy: correlation between clinical symptoms and neuroimaging] |
| Q72840027 | [Two siblings with metachromatic leukodystrophy of adult and juvenile onset] |
| Q50886828 | [Ultrastructural and histochemical studies of late infantile metachromatic leukodystrophy] |
| Q67300328 | [Use of electrophoresis for the detection of metachromatic leukodystrophy from human leukocytes] |
| Q78558714 | [What is your diagnosis? Metachromatic leukodystrophy] |
| Q39101300 | p.Nitrocatechol Sulfate for Arylsulfatase Assay: Detection of Metachromatic Leukodystrophy Variants |
| Q44017390 | Degradation pathway of sphingolipids, including diseases | medical condition | P1050 |
| Q14905432 | ARSA | genetic association | P2293 |
| Q55998666 | metachromatic leukodystrophy, juvenile form | subclass of | P279 |
| Category:Metachromatic leukodystrophy | wikimedia | |
| Arabic (ar / Q13955) | حثل المادة البيضاء متبدل اللون | wikipedia |
| Metahromatska leukodistrofija | wikipedia | |
| Catalan (ca / Q7026) | Leucodistròfia metacromàtica | wikipedia |
| Metachromatische Leukodystrophie | wikipedia | |
| Metachromatic leukodystrophy | wikipedia | |
| Leucodistrofia metacromática | wikipedia | |
| Persian (fa / Q9168) | لکودیستروفی متاکروماتیک | wikipedia |
| Metakromaattinen leukodystrofia | wikipedia | |
| Leucodystrophie métachromatique | wikipedia | |
| gl | Leucodistrofia metacromática | wikipedia |
| Metachromatic leukodystrophy | wikipedia | |
| Leucodistrofia metacromatica | wikipedia | |
| nb | Metakromatisk leukodystrofi | wikipedia |
| Metachromatische leukodystrofie | wikipedia | |
| Leukodystrofia metachromatyczna | wikipedia | |
| Leucodistrofia metacromática | wikipedia | |
| Метахроматическая лейкодистрофия | wikipedia | |
| Метахроматска леукодистрофија | wikipedia | |
| Metakromatisk leukodystrofi | wikipedia | |
| Metakromatik lökodistrofi | wikipedia | |
| 異染性腦白質退化症 | wikipedia |
Search more.