Abstract is: Hurler syndrome, also known as mucopolysaccharidosis Type IH (MPS-IH), Hurler's disease, and formerly gargoylism, is a genetic disorder that results in the buildup of large sugar molecules called glycosaminoglycans (GAGs) in lysosomes. The inability to break down these molecules results in a wide variety of symptoms caused by damage to several different organ systems, including but not limited to the nervous system, skeletal system, eyes, and heart. The underlying mechanism is a deficiency of alpha-L iduronidase, an enzyme responsible for breaking down GAGs. Without this enzyme, a buildup of dermatan sulfate and heparan sulfate occurs in the body. Symptoms appear during childhood, and early death usually occurs. Other, less severe forms of MPS Type I include Hurler-Scheie Syndrome (MPS-IHS) and Scheie Syndrome (MPS-IS). Hurler syndrome is classified as a lysosomal storage disease. It is clinically related to Hunter syndrome (MPS II); however, Hunter syndrome is X-linked, while Hurler syndrome is autosomal recessive.
malformation syndrome | Q1401195 |
class of disease | Q112193867 |
mucopolysaccharidosis I | Q1906054 |
P508 | BNCF Thesaurus ID | 21915 |
P1417 | Encyclopædia Britannica Online ID | science/Hurler-syndrome |
P4317 | GARD rare disease ID | 12559 |
P3827 | JSTOR topic ID (archived) | mucopolysaccharidosis-i |
P6366 | Microsoft Academic ID | 2777636572 |
P1748 | NCI Thesaurus ID | C61261 |
P492 | OMIM ID | 607014 |
607014 | ||
P10283 | OpenAlex ID | C2777636572 |
C2910727661 | ||
P1550 | Orphanet ID | 93473 |
P11143 | WikiProjectMed ID | Hurler syndrome |
P138 | named after | Gertrud Hurler | Q2699543 |
Q54835960 | GM00002 |
Q54835992 | GM00034 |
Q54836208 | GM00415 |
Q54836457 | GM00798 |
Q54836510 | GM00887 |
Q54836617 | GM01034 |
Q54836622 | GM01053 |
Q54836744 | GM01257 |
Q54836801 | GM01391 |
Q54837142 | GM01867 |
Q54842221 | GM06214 |
Q54854143 | GM26656 |
Q94219283 | HPS0660 |
Q111733453 | HT148A |
Q111733454 | HT148D |
Q54906517 | MPS-KC-iPS 1 |
Q54906518 | MPS-KC-iPS 2 |
Q54906519 | MPS-MSC-iPS 2 |
Q98134309 | UNIGEi001-A |
Q61953175 | A 20-year review of the changing pattern of graft failure in cord blood transplant for Hurler syndrome |
Q76962482 | A CHARACTERISTIC BONE MARROW FINDING IN THE HURLER SYNDROME |
Q70351309 | A child with Hurler syndrome |
Q50335673 | A common mutation for mucopolysaccharidosis type I associated with a severe Hurler syndrome phenotype |
Q39273461 | A deletion/insertion mutation in the IDUA gene in a Libyan Jewish patient with Hurler syndrome (mucopolysaccharidosis IH). |
Q41501153 | A mutant stop codon (TAG) in the IDUA gene is used as an acceptor splice site in a patient with Hurler syndrome (MPS IH). |
Q51953623 | Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH). |
Q69375617 | An Ultrastructural Comparison of Normal and Hurler Syndrome Dermal Fibroblasts |
Q64250400 | An online survey on burden of illness among families with post-stem cell transplant mucopolysaccharidosis type I children in the United States |
Q79719170 | Analysis of factors affecting development of carpal tunnel syndrome in patients with Hurler syndrome after hematopoietic cell transplantation |
Q28319588 | Atypical hurler syndrome without .ALPHA.-L-iduronidase deficiency |
Q73052299 | Bilateral symmetrically increased Tc-99m MDP cranial uptake in Hurler syndrome |
Q79552817 | Biochemical monitoring after haemopoietic stem cell transplant for Hurler syndrome (MPSIH): implications for functional outcome after transplant in metabolic disease |
Q70283201 | Bone marrow transplantation for Hurler syndrome: assessment of metabolic correction |
Q33765215 | Bone marrow transplantation for globoid cell leukodystrophy, adrenoleukodystrophy, metachromatic leukodystrophy, and Hurler syndrome |
Q77157519 | CARDIOVASCULAR MANIFESTATIONS OF THE HURLER SYNDROME: HEMODYNAMIC AND ANGIOCARDIOGRAPHIC OBSERVATIONS IN 15 PATIENTS |
Q81572104 | Cardiac functional and histopathologic findings in humans and mice with mucopolysaccharidosis type I: implications for assessment of therapeutic interventions in hurler syndrome |
Q39368399 | Chiari I malformation and syringomyelia in mucopolysaccharidosis type I (Hurler syndrome) treated with posterior fossa decompression: Case report and review of the literature |
Q84555169 | Clear cells in the atrioventricular valves of infants with severe human mucopolysaccharidosis (Hurler syndrome) are activated valvular interstitial cells |
Q42143690 | Clinical manifestation of Hurler syndrome in a 7 year old child |
Q92751845 | Clinical trial of laronidase in Hurler syndrome after hematopoietic cell transplantation |
Q84477820 | Combined enzyme replacement and haematopoietic stem cell transplantation in Hurler syndrome |
Q77156557 | Coronary artery patency following long-term successful engraftment 14 years after bone marrow transplantation in the Hurler syndrome |
Q33993038 | Correction of odontoid dysplasia following bone-marrow transplantation and engraftment (in Hurler syndrome MPS 1H). |
Q30665510 | Decreased performance in IDUA knockout mouse mimic limitations of joint function and locomotion in patients with Hurler syndrome |
Q80842206 | Developmental outcome in five children with Hurler syndrome after stem cell transplantation: a pilot study |
Q80842188 | Developmental outcomes in children with Hurler syndrome after stem cell transplantation |
Q53180215 | Dried blood spot analysis: an easy and reliable tool to monitor the biochemical effect of hematopoietic stem cell transplantation in hurler syndrome patients. |
Q39515710 | Encapsulated engineered myoblasts can cure Hurler syndrome: preclinical experiments in the mouse model |
Q36472871 | Enzyme replacement is associated with better cognitive outcomes after transplant in Hurler syndrome |
Q38367272 | Enzyme replacement therapy in Hurler syndrome after failure of hematopoietic transplant |
Q89779176 | Erratum: Aldenhoven M, van den Broek BTA, Wynn RF, et al. Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation. Blood Adv. 2017;1(24):2236-2242 |
Q68131589 | Evaluation of coronary artery disease in the Hurler syndrome by angiography |
Q74118516 | Extensive mongolian spots in an infant with Hurler syndrome |
Q37127672 | Fatal and unanticipated cardiorespiratory disease in a two-year-old child with hurler syndrome following successful stem cell transplant |
Q67268129 | Fiberoptic intubation complicated by pulmonary edema in a 12-year-old child with Hurler syndrome |
Q73092644 | Fludarabine-based protocol for haploidentical peripheral blood stem cell transplantation in Hurler syndrome |
Q50504785 | Follow-up of nine patients with Hurler syndrome after bone marrow transplantation. |
Q46832408 | Foot and ankle abnormalities in the Hurler syndrome: additions to the phenotype |
Q31837572 | Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of alpha-L-iduronidase activity and reduces lysosomal glycosaminoglycan accumulation |
Q52178466 | Genu valgum deformity in Hurler syndrome after hematopoietic stem cell transplantation: correction by surgical intervention. |
Q58577240 | Getting the Most: Enhancing Efficacy by Promoting Erythropoiesis and Thrombopoiesis after Gene Therapy in Mice with Hurler Syndrome |
Q52031312 | Gross and fine motor skills of children with Hurler syndrome (MPS-IH) post umbilical cord blood transplantation: a case series report. |
Q44931975 | Gross motor development of children with hurler syndrome after umbilical cord blood transplantation. |
Q51714921 | Growth and endocrine function in patients with Hurler syndrome after hematopoietic stem cell transplantation. |
Q47395088 | Growth, final height and endocrine sequelae in a UK population of patients with Hurler syndrome (MPS1H). |
Q45888342 | Haemophilia A and mucopolysaccharidosis I-H (Hurler Syndrome): a case report |
Q34557967 | Hematopoietic differentiation of induced pluripotent stem cells from patients with mucopolysaccharidosis type I (Hurler syndrome) |
Q37284902 | Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy. |
Q72809853 | Heparan sulfate and dermatan sulfate from the liver of a patient with Hurler syndrome: high performance liquid chromatography of their degradation products after incubation with α-l-iduronidase-deficient fibroblasts |
Q73968295 | Heritable disorders of connective tissue. VII. The Hurler syndrome |
Q39381088 | High-dose enzyme replacement therapy in murine Hurler syndrome |
Q38118090 | Hip dysplasia in patients with Hurler syndrome (mucopolysaccharidosis type 1H). |
Q39653207 | Hurler syndrome (Mucopolysaccharidosis type I). |
Q44993885 | Hurler syndrome (a case report) |
Q58836805 | Hurler syndrome or Morquio syndrome: Intelligence required for diagnosing the case |
Q51917292 | Hurler syndrome with a tuft of hair. |
Q69180093 | Hurler syndrome with cardiomyopathy in infancy |
Q71450495 | Hurler syndrome with severe complication in post-bone marrow transplantation course: life threatening interstitial pneumonitis and hypertension |
Q52481727 | Hurler syndrome with special reference to histologic abnormalities of the growth plate. |
Q41620413 | Hurler syndrome: A patient with abnormally high levels of α-l-iduronidase protein |
Q44747596 | Hurler syndrome: II. Outcome of HLA-genotypically identical sibling and HLA-haploidentical related donor bone marrow transplantation in fifty-four children. The Storage Disease Collaborative Study Group |
Q73788691 | Hurler syndrome: a case report |
Q51858113 | Hurler syndrome: a case report of a 5-year follow-up of dental findings after bone marrow transplantation. |
Q67521718 | Hurler syndrome: alpha-L-iduronidase activity in leukocytes as a method for heterozygote detection |
Q87609017 | Hurler syndrome: orofacial, dental, and skeletal findings of a case |
Q53572902 | Hurler syndrome: past, present, and future. |
Q64230256 | Immune cytopenia post-cord transplant in Hurler syndrome is a forme fruste of graft rejection |
Q96170157 | Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome) |
Q52221654 | Intrafamilial variability in Hurler syndrome and Sanfilippo syndrome type A: implications for evaluation of new therapies. |
Q61915115 | Intrathecal Enzyme Replacement for Hurler Syndrome |
Q90284147 | Intrathecal enzyme replacement for Hurler syndrome: biomarker association with neurocognitive outcomes |
Q63316283 | Laronidase (Aldurazyme TM) Enzyme Replacement Therapy With Hematopoietic Stem Cell Transplant for Hurler Syndrome |
Q48334841 | Laronidase for cardiopulmonary disease in Hurler syndrome 12 years after bone marrow transplantation |
Q61756744 | Lipid Composition of Whole Brain and Cerebellum in Hurler Syndrome (MPS IH) Mice |
Q78757539 | Lissencephaly and mongolian spots in Hurler syndrome |
Q38741428 | Liver-Directed Human Amniotic Epithelial Cell Transplantation Improves Systemic Disease Phenotype in Hurler Syndrome Mouse Model |
Q39173635 | Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation |
Q61953179 | Long term survival and cardiopulmonary outcome in children with Hurler syndrome after haematopoietic stem cell transplantation in Manchester |
Q37329301 | Long-Term Cognitive and Functional Outcomes in Children with Mucopolysaccharidosis (MPS)-IH (Hurler Syndrome) Treated with Hematopoietic Cell Transplantation. |
Q95796871 | Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome |
Q49672044 | Long-Term Results of Carpal Tunnel and Trigger Finger Releases in a Patient with Hurler Syndrome: A Case Report. |
Q76408671 | Long-term corticosteroid therapy in Hurler syndrome |
Q35220724 | Long-term functional outcomes of children with hurler syndrome treated with unrelated umbilical cord blood transplantation |
Q37708615 | Long-term in vitro correction of alpha-L-iduronidase deficiency (Hurler syndrome) in human bone marrow. |
Q48303127 | Long-term outcome of Hurler syndrome following bone marrow transplantation |
Q41522160 | Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study. |
Q80102138 | Long-term outcomes of adaptive functions for children with mucopolysaccharidosis I (Hurler syndrome) treated with hematopoietic stem cell transplantation |
Q52727905 | Long-term outcomes of systemic therapies for Hurler syndrome: an international multicenter comparison. |
Q63404053 | MGTA-456 in Patients With Inherited Metabolic Disorders Undergoing Hematopoietic Stem Cell Transplantation (HSCT) |
Q43986936 | Mitochondrial budding and morphogenesis of cytoplasmic vacuoles in hepatocytes of children with the hurler syndrome and sanfilippo disease |
Q35104361 | Molecular Genetics and Metabolism Report Long-term follow-up of post hematopoietic stem cell transplantation for Hurler syndrome: clinical, biochemical, and pathological improvements |
Q35194898 | Molecular analysis of Hurler syndrome in Druze and Muslim Arab patients in Israel: multiple allelic mutations of the IDUA gene in a small geographic area |
Q50358176 | Mucopolysaccharidosis I, Hurler syndrome: a case report |
Q38016582 | Mucopolysaccharidosis type I (Hurler syndrome) and anesthesia: the impact of bone marrow transplantation, enzyme replacement therapy, and fiberoptic intubation on airway management |
Q68079351 | Mucopolysaccharidosis type I (Hurler syndrome): linkage disequilibrium indicates the presence of a major allele |
Q30362720 | Mucopolysaccharidosis type I (Hurler syndrome): oral and radiographic findings and ultrastructural/chemical features of enamel and dentin. |
Q38869195 | Mucopolysaccharidosis type I: characterization of a common mutation that causes Hurler syndrome in Moroccan subjects. |
Q37080149 | Musculoskeletal manifestations in mucopolysaccharidosis type I (Hurler syndrome) following hematopoietic stem cell transplantation. |
Q46239675 | Musculoskeletal manifestations of Hurler syndrome: long-term follow-up after bone marrow transplantation |
Q70285072 | Nephrotic syndrome and hypertension in two children with Hurler syndrome |
Q52178596 | Neuropsychological development in children with Hurler syndrome following hematopoietic stem cell transplantation. |
Q35600316 | Normalization and improvement of CNS deficits in mice with Hurler syndrome after long-term peripheral delivery of BBB-targeted iduronidase |
Q43690748 | Oral busulfan pharmacokinetics and engraftment in children with Hurler syndrome and other inherited metabolic storage diseases undergoing hematopoietic cell transplantation |
Q84399888 | Oral features and dental health in Hurler Syndrome following hematopoietic stem cell transplantation |
Q99604301 | Outcome after a cord blood transplantation using busulfan pharmacokinetic targeted myeloablative conditioning for Hurler syndrome |
Q79335224 | Outcome after three years of laronidase enzyme replacement therapy in a patient with Hurler syndrome |
Q51891201 | Outcome in six children with mucopolysaccharidosis type IH, Hurler syndrome, after haematopoietic stem cell transplantation (HSCT). |
Q34333060 | Outcomes of transplantation using various hematopoietic cell sources in children with Hurler syndrome after myeloablative conditioning |
Q90426093 | Post-transplant laronidase augmentation for children with Hurler syndrome: biochemical outcomes |
Q53540810 | Pre-stem cell transplantation enzyme replacement therapy in Hurler syndrome does not lead to significant antibody formation or delayed recovery of the endogenous enzyme post-transplant: a case report. |
Q68522296 | Prenatal diagnosis of the Hurler syndrome: mucopolysaccharide pattern in amniotic fluid |
Q70449676 | Prenatal diagnosis of the Hurler syndrome: report on 40 pregnancies at risk |
Q68545165 | Progress report: the influence of plasma infusions on a child with the Hurler syndrome during the first 18 months of life |
Q78843933 | Pulmonary disability in the Hurler syndrome (lipochondrodystrophy): a study of two cases |
Q89777548 | Quality of life of Hurler syndrome patients after successful hematopoietic stem cell transplantation |
Q74098618 | Radiological case of the month. Coarctation of the aorta in Hurler syndrome |
Q48960909 | Resolution of obstructive sleep apnea in Hurler syndrome after bone marrow transplantation |
Q34763337 | Short-term growth hormone treatment in children with Hurler syndrome after hematopoietic cell transplantation |
Q41337949 | Simplified assay method of α-l-iduronidase activity in leukocytes for detection of hurler syndrome and its carriers |
Q41159487 | Sleep Apnea in Hurler Syndrome: Looking Beyond the Upper Airway |
Q71849821 | Spinal problems in mucopolysaccharidosis I (Hurler syndrome) |
Q68379637 | Structure of heparitin sulfate in tissues of the Hurler syndrome |
Q34272120 | Study of the Hurler syndrome using cell culture: definition of the biochemical phenotype and the effects of ascorbic acid on the mutant cell |
Q48266013 | Subregional brain distribution of simple and complex glycosphingolipids in the mucopolysaccharidosis type I (Hurler syndrome) mouse: impact of diet. |
Q52907916 | Successful Use of Eltrombopag in a Child With Hurler Syndrome After Haploidentical Hematopoietic Stem Cell Transplantation. |
Q80985435 | Successful treatment of severe heart failure in an infant with Hurler syndrome |
Q86654372 | TCRαβ CD19 depletion in allogeneic haematopoietic stem cell transplantation performed for Hurler syndrome |
Q78465534 | THE HURLER SYNDROME: A BIOCHEMICAL AND CLINICAL STUDY |
Q44929975 | Temporal and spatial gait characteristics of children with Hurler syndrome after umbilical cord blood transplantation. |
Q52772433 | The Frequency of Carpal Tunnel Syndrome in Hurler Syndrome After Peritransplant Enzyme Replacement Therapy: A Retrospective Comparison. |
Q39747874 | The Hurler Syndrome: Treatment of Cultured Hurler Fibroblasts with Normal Human Serum |
Q54139445 | The Hurler syndrome without abnormal mucopolysacchariduria. |
Q36271914 | The Hurler syndrome: a study of cultured lymphoid cell lines |
Q71581321 | The Hurler syndrome: detection of patients and heterozygotes using a microassay for alpha-L-iduronidase in fibroblasts |
Q37138145 | The clinical outcome of Hurler syndrome after stem cell transplantation. |
Q44589814 | The heart in the Hurler syndrome: gross, histologic and ultrastructural observations in five necropsy cases |
Q72310553 | The presenting features of mucopolysaccharidosis type IH (Hurler syndrome) |
Q69938118 | The stylohyoid ligament in Hurler syndrome and related conditions: comparison with normal children |
Q52587279 | Total hip arthroplasty in Hurler syndrome - 8 years follow up - A case report with review of literature. |
Q93728965 | Treatment of Hurler syndrome |
Q50750438 | Ultrastructural study of the cornea in a bone marrow-transplanted Hurler syndrome patient. |
Q84734042 | Uncontrolled hypertension in a child with Hurler syndrome |
Q79070118 | Urinary acid mucopolysaccharides (AMP) in the Hurler syndrome and Morquio's disease |
Q79362053 | Urinary mucopolysaccharide excretion in the sex-linked form of the Hurler syndrome |
Q79096329 | Usefulness of bone marrow transplantation in the Hurler syndrome |
Q90350393 | ZFN-Mediated In Vivo Genome Editing Corrects Murine Hurler Syndrome |
Q67515099 | [Alpha-L-iduronidase activity in fibroblasts of patients with Hurler syndrome] |
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Q74722623 | [Mucopolysaccharidosis type I (Hurler syndrome, Scheie syndrome)] |
Q91629380 | [Rhinosinusitis in Hurler syndrome patients requiring hematopoietic stem cells transplantation] |
Q67521143 | alpha-L-iduronidase activity in leukocytes: diagnosis of homozygotes and heterozygotes of the Hurler syndrome |
Arabic (ar / Q13955) | متلازمة هيرلر | wikipedia |
az | Hurler sindromu | wikipedia |
Morbus Hurler | wikipedia | |
Hurler syndrome | wikipedia | |
Persian (fa / Q9168) | بیماری هورلر | wikipedia |
Hurlerin oireyhtymä | wikipedia | |
Syndrome de Hurler | wikipedia | |
Հուրլերի համախտանիշ | wikipedia | |
Malattia di Hurler | wikipedia | |
Zespół Hurler | wikipedia | |
Синдром Гурлер | wikipedia | |
Мукополисахаридоза тип I H | wikipedia | |
Hurlers sjukdom | wikipedia |
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