review article | Q7318358 |
scholarly article | Q13442814 |
P2093 | author name string | Kihara H | |
P2860 | cites work | Lysosomal arylsulfatase deficiencies in humans: Chromosome assignments for arylsulfatase A and B | Q24597204 |
AB variant of infantile GM2 gangliosidosis: deficiency of a factor necessary for stimulation of hexosaminidase A-catalyzed degradation of ganglioside GM2 and glycolipid GA2 | Q24603706 | ||
A cerebrosidesulfatase from swine kidney | Q28256588 | ||
Genetic complementation studies of multiple sulfatase deficiency | Q33989276 | ||
Evidence for the presence of two separate protein activators for the enzymic hydrolysis of GM1 and GM2 gangliosides | Q34093724 | ||
Metachromatic leukodystrophy in the habbanite Jews: high frequency in a genetic isolate and screening for heterozygotes | Q34707083 | ||
The defect in the Hunter syndrome: deficiency of sulfoiduronate sulfatase | Q35108896 | ||
Selective Degradation of Abnormal Proteins in Mammalian Tissue Culture Cells | Q35119098 | ||
Cerebroside sulfatase activator deficiency induced metachromatic leukodystrophy | Q35201796 | ||
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family | Q35202014 | ||
Presence of arylsulfatase A (ARS A) in multiple sulfatase deficiency disorder fibroblasts | Q35202748 | ||
Arysulfatase A modulation with pH in multiple sulfatase deficiency disorder fibroblasts | Q35203477 | ||
Absence of -N-acetyl-D-hexosaminidase A activity in a healthy woman | Q35569774 | ||
Prenatal diagnosis of genetic disease in Canada: report of a collaborative study | Q35814377 | ||
Segregation within a family of two mutant alleles for hexosaminidase A | Q67449983 | ||
Plasma alpha-L-fucosidase: presence of a low activity variant in some normal individuals | Q67790877 | ||
Role of amniocentesis in the intrauterine detection of genetic disorders | Q68449725 | ||
Juvenile metachromatic leukodystrophy: deficiency of an arylsufatase A component | Q68810409 | ||
Metachromatic leukodystrophy. I. Prenatal detection of arylsulphatase A deficiency | Q69630260 | ||
Infantile metachromatic leukodystrophy | Q70135493 | ||
A correlation of intracellular cerebroside sulfatase activity in fibroblasts with latency in metachromatic leukodystrophy | Q70609536 | ||
Metabolic disorders of sphingolipid metabolism in man | Q71583883 | ||
GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts | Q71602878 | ||
Metachromatic leukodystrophy (MLD). IX. Qualitative and quantitative differences in urinary arylsulfatase A in different forms of MLD | Q71749833 | ||
Infantile and adult-onset metachromatic leukodystrophy. Biochemical comparisons and predictive diagnosis | Q71815752 | ||
Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test | Q72425940 | ||
Letter to the Editor: About the Inheritance of the Aryl Sulfatase A | Q72432751 | ||
[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 significance | Q93824907 | ||
Complementation of arylsulfatase A in somatic hybrids of metachromatic leukodystrophy and multiple sulfatase deficiency disorder fibroblasts | Q36412160 | ||
Metachromatic leukodystrophy: arylsulfatase-A deficiency in skin fibroblast cultures | Q36450898 | ||
Gaucher's disease: deficiency of 'acid' -glucosidase and reconstitution of enzyme activity in vitro | Q37491868 | ||
Discussion: Metachromatic Leukodystrophy, An Unusual Case with a Subtle Cerebroside Sulfatase Defect | Q39065968 | ||
Low molecular weight proteins in secondary lysosomes as activators of different sphingolipid hydrolases | Q39107876 | ||
Apparent biochemical homozygosity in two obligatory heterozygotes for metachromatic leukodystrophy | Q39109110 | ||
The activator of cerebroside sulphatase binding studies with enzyme and substrate demonstrating the detergent function of the activator protein | Q39143439 | ||
Cerebroside sulfate hydrolysis by fibroblasts from a parent with metachromatic leukodystrophy | Q39188860 | ||
Expression of human arylsulfatase-A in man-hamster somatic cell hybrids | Q39256498 | ||
Metachromatic leukodystrophy without arylsulfatase A deficiency | Q39283983 | ||
X-linked ichthyosis due to steroid-sulphatase deficiency | Q39471869 | ||
Enzyme replacement in cultured fibroblasts from metachromatic leukodystrophy | Q39949751 | ||
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 Protein | Q40338107 | ||
Prenatal metachromatic leukodystrophy | Q40338255 | ||
Biochemical and genetic studies of plasma and leukocyte alpha-L-fucosidase | Q40620383 | ||
Kinetic and immunochemical characterization of low-activity serum alpha-L-fucosidase from a phenotypically normal individual | Q41832188 | ||
Bile salt activation of cerebroside sulphate sulphohydrolase | Q42880840 | ||
Inheritance of metachromatic leukodystrophy | Q43143602 | ||
An activator stimulating the enzymic hydrolysis of sphingoglycolipids | Q43738277 | ||
Metachromatic leukodystrophy (MLD). 8. MLD in adults; diagnosis and pathogenesis | Q44368047 | ||
The nature of the residual arylsulfatase activity in metachromatic leukodystrophy | Q44432874 | ||
Assignment of a gene for arylsulfatase B to human chromosome 5 using human-mouse somatic cell hybrids | Q44455515 | ||
Absence of Hexosaminidase a and B in a Normal Adult | Q44528137 | ||
Metachromatic Leukodystrophy: Diagnosis with Samples of Venous Blood | Q44609251 | ||
Multiple sulfatase deficiencies in cultured skin fibroblasts. Occurrence in patients with a variant form of metachromatic leukodystrophy | Q44962658 | ||
Low arylsulphatase A activity in a family without metachromatic leukodystrophy | Q45221332 | ||
Simplified procedure for preparation of 35S-labeled brain sulfatide | Q48510156 | ||
Infantile metachromatic leukodystrophy. Confirmation of a prenatal diagnosis | Q48650823 | ||
Cerebroside sulfatase determination in cultured human fibroblasts | Q48787816 | ||
Juvenile GM2 gangliosidosis: Partial deficiency of bexosaminidase A | Q48881151 | ||
Partial deficiency of hexosaminidase component A in juvenile GM2-gangliosidosis | Q48898500 | ||
Cerebroside sulphate (sulphatide) sulphohydrolase: an improved assay method | Q51109655 | ||
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 METABOLISM | Q51281682 | ||
Late Infantile Metachromatic Leucodystrophy of the Genetic Type | Q51310175 | ||
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 Leucodystrophy | Q59063389 | ||
Prenatal diagnosis of a case of metachromatic leucodystrophy (author's transl) | Q66919068 | ||
Absence of ASA Activity in Healthy Father of a Patient with Metachromatic Leukodystrophy | Q66941122 | ||
The occurrence of low α-l-fucosidase activities in normal human serum | Q67322564 | ||
Fucosidosis: Detection of the carrier state in peripheral blood leukocytes | Q67326435 | ||
Possible misdiagnosis of Krabbe disease | Q67433078 | ||
P433 | issue | 2 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | heterogeneity | Q928498 |
metachromatic leukodystrophy | Q1120682 | ||
P304 | page(s) | 171-181 | |
P577 | publication date | 1982-03-01 | |
P1433 | published in | American Journal of Human Genetics | Q4744249 |
P1476 | title | Genetic heterogeneity in metachromatic leukodystrophy | |
P478 | volume | 34 |
Q52498776 | Arylsulfatase A in pseudodeficiency |
Q71113428 | Biliary disease in metachromatic leukodystrophy |
Q68084120 | Deficient glycosylation of arylsulfatase A in pseudo arylsulfatase-A deficiency |
Q34247967 | Early manifestations of multiple sulfatase deficiency |
Q48496615 | Increased concentration of the CSF Tau protein and its phosphorylated form in the late juvenile metachromatic leukodystrophy form: a case report |
Q37690419 | Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases |
Q40805764 | Late-onset Krabbe disease initially diagnosed as cerebroside sulfatase activator deficiency |
Q54182527 | Polyposis of the gallbladder associated with metachromatic leukodystrophy. |
Q41342713 | The influence of low arylsulfatase A activity on neuropsychiatric morbidity: a large-scale screening in patients |
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