Skip to search form
Skip to main content
Skip to account menu
Semantic Scholar
Semantic Scholar's Logo
Search 227,741,300 papers from all fields of science
Search
Sign In
Create Free Account
Leukodystrophy, Metachromatic
Known as:
leukodystrophy metachromatic
, Arylsulfatase A Deficiency Disease
, Metachromatic Leukoencephalopathies
Expand
An autosomal recessive inherited disorder characterized by abnormalities in the development of the myelin sheaths. It is caused by a deficiency of…
Expand
National Institutes of Health
Create Alert
Alert
Related topics
Related topics
46 relations
ARSA gene
ARSA wt Allele
Abnormal behavior
Arylsulfatases
Expand
Narrower (8)
Arylsulfatase A Deficiency
Cerebral Sclerosis, Diffuse, Scholz Type
Combined Saposin Deficiency
Metachromatic Leukodystrophy due to Saposin B Deficiency
Expand
Broader (5)
Enzyme Deficiency
Leukodystrophy
Lysosomal Storage Diseases
Sulfatidosis
Expand
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.
N. Cartier
,
P. Aubourg
Current opinion in molecular therapeutics (Print)
2008
Corpus ID: 46262730
Hurler syndrome, metachromatic leukodystrophy, globoid-cell leukodystrophy (Krabbe's disease) and X-linked adrenoleukodystrophy…
Expand
Highly Cited
1997
Highly Cited
1997
Lipofuscin accumulation in cultured retinal pigment epithelial cells causes enhanced sensitivity to blue light irradiation.
U. Wihlmark
,
A. Wrigstad
,
Karin Roberg
,
S. G. Nilsson
,
Ulf T. Brunk
Free Radical Biology & Medicine
1997
Corpus ID: 28004923
Highly Cited
1996
Highly Cited
1996
Clinical outcome in four children with metachromatic leukodystrophy treated by bone marrow transplantation.
G. Malm
,
O. Ringdén
,
+6 authors
J. Månsson
Bone Marrow Transplantation
1996
Corpus ID: 42421345
Four children with metachromatic leukodystrophy (MLD) underwent allogeneic bone marrow transplantation between 1988 and 1993. No…
Expand
Highly Cited
1983
Highly Cited
1983
Juvenile and adult metachromatic leukodystrophy: partial restoration of arylsulfatase A (cerebroside sulfatase) activity by inhibitors of thiol proteinases.
K. Figura
,
F. Steckel
,
Andrej Hasilik
Proceedings of the National Academy of Sciences…
1983
Corpus ID: 30350830
Arylsulfatase A polypeptides were examined in cultured fibroblasts from a patient with juvenile metachromatic leukodystrophy and…
Expand
Highly Cited
1982
Highly Cited
1982
A variant form of metachromatic leukodystrophy without arylsulfatase deficiency
A. Hahn
,
B. Gordon
,
V. Feleki
,
G. Hinton
,
J. Gilbert
Annals of Neurology
1982
Corpus ID: 7700014
The clinical, pathological, and biochemical findings in a young woman with a new variant of metachromatic leukodystropy (MLD) are…
Expand
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
H. Kihara
,
Chen-Kung Ho
,
A. Fluharty
,
K. K. Tsay
,
P. Hartlage
Pediatric Research
1980
Corpus ID: 9484871
Summary: Prenatal diagnosis was requested by a family at risk for metachromatic leukodystrophy (MLD). An examination of the…
Expand
Highly Cited
1977
Highly Cited
1977
Very low arylsulfatase A and cerebroside sulfatase activities in leukocytes of healthy members of metachromatic leukodystrophy family.
G. Dubois
,
K. Harzer
,
N. Baumann
American Journal of Human Genetics
1977
Corpus ID: 21485781
Very low levels of arylsulfatase A (ASA) have been found in the leukocytes of healthy members of a metachromatic leukodystrophy…
Expand
Highly Cited
1976
Highly Cited
1976
Increased levels of sialic acid associated with a sialidase deficiency in I-cell disease (mucolipidosis II) fibroblasts.
G. Thomas
,
G. Tiller
,
L. Reynolds
,
C. Miller
,
J. W. Bace
Biochemical and Biophysical Research…
1976
Corpus ID: 1566538
Highly Cited
1970
Highly Cited
1970
A pedigree study of metachromatic leukodystrophy
N. H. Bass
,
E. Witmer
,
F. Dreifuss
Neurology
1970
Corpus ID: 10159187
LATE INFANTILE metachromatic leukodystrophy (MLD) is a genetically determined disorder of sphingolipid metabolism in which…
Expand
Highly Cited
1969
Highly Cited
1969
CEREBROSIDE‐SULPHATASE AND ARYLSULPHATASE A DEFICIENCY IN METACHROMATIC LEUKODYSTROPHY (ML)
Horst Jatzkewitz
,
E. Mehl
Journal of Neurochemistry
1969
Corpus ID: 32297395
Abstract— Cerebroside‐sulphatase, arylsulphatase A and B and acid phosphatase activities were determined in renal cortex, liver…
Expand
By clicking accept or continuing to use the site, you agree to the terms outlined in our
Privacy Policy
(opens in a new tab)
,
Terms of Service
(opens in a new tab)
, and
Dataset License
(opens in a new tab)
ACCEPT & CONTINUE