Genetic heterogeneity in metachromatic leukodystrophy

scientific article

Genetic heterogeneity in metachromatic leukodystrophy is …
instance of (P31):
review articleQ7318358
scholarly articleQ13442814

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P932PMC publication ID1685282
P698PubMed publication ID6122378

P2093author name stringKihara H
P2860cites workLysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and BQ24597204
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2Q24603706
A cerebrosidesulfatase from swine kidneyQ28256588
Genetic complementation studies of multiple sulfatase deficiencyQ33989276
Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosidesQ34093724
Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotesQ34707083
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfataseQ35108896
Selective Degradation of Abnormal Proteins in Mammalian Tissue Culture CellsQ35119098
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophyQ35201796
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy familyQ35202014
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblastsQ35202748
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblastsQ35203477
Absence of -N-acetyl-D-hexosaminidase A activity in a healthy womanQ35569774
Prenatal diagnosis of genetic disease in Canada: report of a collaborative studyQ35814377
Segregation within a family of two mutant alleles for hexosaminidase AQ67449983
Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individualsQ67790877
Role of amniocentesis in the intrauterine detection of genetic disordersQ68449725
Juvenile metachromatic leukodystrophy: deficiency of an arylsufatase A componentQ68810409
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiencyQ69630260
Infantile metachromatic leukodystrophyQ70135493
A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophyQ70609536
Metabolic disorders of sphingolipid metabolism in manQ71583883
GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured FibroblastsQ71602878
Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLDQ71749833
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosisQ71815752
Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading TestQ72425940
Letter to the Editor: About the Inheritance of the Aryl Sulfatase AQ72432751
[Two types of cerebroside sulfates as so-called prelipids and storage substances in leukodystrophy of type Scholz (metachromatic form of diffuse sclerosis).]Q78425932
A monospecific antibody to human sulfatase A. Preparation, characterization and significanceQ93824907
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblastsQ36412160
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast culturesQ36450898
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitroQ37491868
Discussion: Metachromatic Leukodystrophy, An Unusual Case with a Subtle Cerebroside Sulfatase DefectQ39065968
Low molecular weight proteins in secondary lysosomes as activators of different sphingolipid hydrolasesQ39107876
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophyQ39109110
The activator of cerebroside sulphatase binding studies with enzyme and substrate demonstrating the detergent function of the activator proteinQ39143439
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophyQ39188860
Expression of human arylsulfatase-A in man-hamster somatic cell hybridsQ39256498
Metachromatic leukodystrophy without arylsulfatase A deficiencyQ39283983
X-linked ichthyosis due to steroid-sulphatase deficiencyQ39471869
Enzyme replacement in cultured fibroblasts from metachromatic leukodystrophyQ39949751
Activators for sphingohydrolases and the nature of the sphingomyelinase deficiency in Niemann-Pick disease types A, B and C (author's transl)Q40064861
The Activator of Cerebroside Sulphatase. Purification from Human Liver and Identification as a ProteinQ40338107
Prenatal metachromatic leukodystrophyQ40338255
Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidaseQ40620383
Kinetic and immunochemical characterization of low-activity serum alpha-L-fucosidase from a phenotypically normal individualQ41832188
Bile salt activation of cerebroside sulphate sulphohydrolaseQ42880840
Inheritance of metachromatic leukodystrophyQ43143602
An activator stimulating the enzymic hydrolysis of sphingoglycolipidsQ43738277
Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesisQ44368047
The nature of the residual arylsulfatase activity in metachromatic leukodystrophyQ44432874
Assignment of a gene for arylsulfatase B to human chromosome 5 using human-mouse somatic cell hybridsQ44455515
Absence of Hexosaminidase a and B in a Normal AdultQ44528137
Metachromatic Leukodystrophy: Diagnosis with Samples of Venous BloodQ44609251
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophyQ44962658
Low arylsulphatase A activity in a family without metachromatic leukodystrophyQ45221332
Simplified procedure for preparation of 35S-labeled brain sulfatideQ48510156
Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosisQ48650823
Cerebroside sulfatase determination in cultured human fibroblastsQ48787816
Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase AQ48881151
Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosisQ48898500
Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay methodQ51109655
Metachromatic leukodystrophy (sulfatide lipidoses) cultured in vitro.Q51214940
Experimental studies on the pathogenesis of leucodystrophies. II. The effect of sphingolipids on various cell types in cultures from the nervous system.Q51235139
Abnormal Sulphatase Activities in Two Human Diseases (Metachromatic Leucodystrophy and Gargoylism)Q51268906
A CONTROLLED STUDY OF ENZYMIC ACTIVITIES IN THREE HUMAN DISORDERS OF GLYCOLIPID METABOLISMQ51281682
Late Infantile Metachromatic Leucodystrophy of the Genetic TypeQ51310175
Metachromatic sulfatides in cerebral white matter and kidney.Q51316726
The accumulation of cerebroside sulfates by fibroblasts in culture from patients with late infantile metachromatic leukocystrophy.Q53777591
Deficiency of Arylsulphatase A in Leucocytes and Skin Fibroblasts in Juvenile Metachromatic LeucodystrophyQ59063389
Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl)Q66919068
Absence of ASA Activity in Healthy Father of a Patient with Metachromatic LeukodystrophyQ66941122
The occurrence of low α-l-fucosidase activities in normal human serumQ67322564
Fucosidosis: Detection of the carrier state in peripheral blood leukocytesQ67326435
Possible misdiagnosis of Krabbe diseaseQ67433078
P433issue2
P407language of work or nameEnglishQ1860
P921main subjectheterogeneityQ928498
metachromatic leukodystrophyQ1120682
P304page(s)171-181
P577publication date1982-03-01
P1433published inAmerican Journal of Human GeneticsQ4744249
P1476titleGenetic heterogeneity in metachromatic leukodystrophy
P478volume34

Reverse relations

cites work (P2860)
Q52498776Arylsulfatase A in pseudodeficiency
Q71113428Biliary disease in metachromatic leukodystrophy
Q68084120Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency
Q34247967Early manifestations of multiple sulfatase deficiency
Q48496615Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report
Q37690419Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases
Q40805764Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency
Q54182527Polyposis of the gallbladder associated with metachromatic leukodystrophy.
Q41342713The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients

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