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Leukodystrophy, Metachromatic

Known as: leukodystrophy metachromatic, Arylsulfatase A Deficiency Disease, Metachromatic Leukoencephalopathies 
An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of… 
National Institutes of Health

Related topics

Related topics

46 relations
ARSA geneARSA wt AlleleAbnormal behaviorArylsulfatases

Narrower (8)

Arylsulfatase A DeficiencyCerebral Sclerosis, Diffuse, Scholz TypeCombined Saposin DeficiencyMetachromatic Leukodystrophy due to Saposin B Deficiency

Broader (5)

Enzyme DeficiencyLeukodystrophyLysosomal Storage DiseasesSulfatidosis

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Review
2008
Review
2008
Hematopoietic stem cell gene therapy in Hurler syndrome, globoid cell leukodystrophy, metachromatic leukodystrophy and X-adrenoleukodystrophy.
Hurler syndrome, metachromatic leukodystrophy, globoid-cell leukodystrophy (Krabbe's disease) and X-linked adrenoleukodystrophy… 
Highly Cited
1997
Highly Cited
1997
Lipofuscin accumulation in cultured retinal pigment epithelial cells causes enhanced sensitivity to blue light irradiation.
Highly Cited
1996
Highly Cited
1996
Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation.
Four children with metachromatic leukodystrophy (MLD) underwent allogeneic bone marrow transplantation between 1988 and 1993. No… 
Highly Cited
1983
Highly Cited
1983
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.
Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and… 
Highly Cited
1982
Highly Cited
1982
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystropy (MLD) are… 
Highly Cited
1980
Highly Cited
1980
Prenatal Diagnosis of Metachromatic Leukodystrophy in a Family with Pseudo Arylsulfatase A Deficiency by the Cerebroside Sulfate Loading Test
Summary: Prenatal diagnosis was requested by a family at risk for metachromatic leukodystrophy (MLD). An examination of the… 
Highly Cited
1977
Highly Cited
1977
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy… 
Highly Cited
1976
Highly Cited
1976
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
Highly Cited
1970
Highly Cited
1970
A pedigree study of metachromatic leukodystrophy
LATE INFANTILE metachromatic leukodystrophy (MLD) is a genetically determined disorder of sphingolipid metabolism in which… 
Highly Cited
1969
Highly Cited
1969
CEREBROSIDE‐SULPHATASE AND ARYLSULPHATASE A DEFICIENCY IN METACHROMATIC LEUKODYSTROPHY (ML)
Abstract— Cerebroside‐sulphatase, arylsulphatase A and B and acid phosphatase activities were determined in renal cortex, liver… 
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