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Leukodystrophy

Known as: Leukodystrophies, leucodystrophies, leucodystrophy 
A group of rare genetic neurodegenerative disorders that affect infants and children. These disorders are characterized by metabolic abnormalities in… 
National Institutes of Health

Related topics

Related topics

26 relations
2,4-Dienoyl-CoA Reductase DeficiencyAICARDI-GOUTIERES SYNDROME 4Alexander DiseaseCEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)

Narrower (9)

AdrenoleukodystrophyCanavan DiseaseDiffuse Cerebral Sclerosis of SchilderGloboid cell leukodystrophy

Broader (1)

Cerebral degeneration

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
1987
Highly Cited
1987
Vitamin B12 and brain development
This is a report of a 11/2-year-old male with megaloblastic anaemia and a progressive neurological disorder clinically resembling… 
Highly Cited
1977
Highly Cited
1977
A sensitive fluorescence assay for the simultaneous and separate determination of arylsulphatases A and B.
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
1971
Highly Cited
1971
THE INCIDENCE AND GENETICS OF METACHROMATIC LEUCODYSTROPHY IN NORTHERN SWEDEN
The purpose of this study was to investigate the incidence and genetics of metachromatic leuco‐dystrophy (MLD). A series of 13… 
Highly Cited
1970
Highly Cited
1970
Peripheral Neuropathy in Cockayne's Syndrome
A detailed study has been made of a typical case of Cockayne's syndrome. An associated peripheral neuropathy has been… 
Highly Cited
1970
Highly Cited
1970
COMPOSITION OF CEREBRAL LIPIDS IN MURINE LEUCODYSTROPHY: THE QUAKING MUTANT
The composition of sphingolipids and phospholipids of mouse brain during myelination was determined in the Quaking mutant, which… 
Highly Cited
1968
Highly Cited
1968
The sphingolipidoses and the eye.
The sphingolipidoses constitute a segment of the inborn errors of metabolism in which glycolipids having a sphingosine base… 
Review
1963
Review
1963
Brain Lipids and Lipoproteins, and the Leucodystrophies.
The purposes of this symposium held in Rome in 1961 would appear to have been to review the accumulated knowledge concerning the… 
Highly Cited
1957
Highly Cited
1957
INFANTILE SUBACUTE NECROTIZING EXCEPHALOPATHY WITH PREDILECTION FOR THE BRAIN STEM
Much progress has been made during the past quarter century in the clarifi­ cation of the diseases encountered in the brains of… 
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