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… (More)

Topic mentions per year

Topic mentions per year

1953-2018
05010015019532017

Papers overview

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Highly Cited
2013
Highly Cited
2013
Metachromatic leukodystrophy (MLD) is an inherited lysosomal storage disease caused by arylsulfatase A (ARSA) deficiency… (More)
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Highly Cited
2007
Highly Cited
2007
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In… (More)
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Highly Cited
2006
Highly Cited
2006
NOTE: The construct we described as moody-GAL4 has a name that was assigned to a different construct in a previously published… (More)
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Highly Cited
2005
Highly Cited
2005
X-linked adreno-leukodystrophy is a progressive, systemic peroxisomal disorder that affects primarily nervous system myelin and… (More)
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Highly Cited
2004
Highly Cited
2004
Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases… (More)
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Highly Cited
2002
Highly Cited
2002
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal… (More)
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Highly Cited
1998
Highly Cited
1998
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central… (More)
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1991
1991
BACKGROUND Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of… (More)
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1985
1985
We have learned much about adreno-leukodystrophy (ALD) since the first case report by Siemerling and Creutzfeld [1923]. Many… (More)
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Highly Cited
1984
Highly Cited
1984
Progressive accumulation of a cytotoxic metabolite, galactosylsphingosine (psychosine), was found in the brain of the twitcher… (More)
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