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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… (More)

Topic mentions per year

Topic mentions per year

1953-2018
05010015019532017

Related topics

Related topics

22 relations
2,4-Dienoyl-CoA Reductase DeficiencyAICARDI-GOUTIERES SYNDROME 4Alexander DiseaseCEREBRORETINAL MICROANGIOPATHY WITH CALCIFICATIONS AND CYSTS (disorder)
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Narrower (7)

AdrenoleukodystrophyCanavan DiseaseDiffuse Cerebral Sclerosis of SchilderGloboid cell leukodystrophy
(More)

Broader (1)

Cerebral degeneration

Related mentions per year

Related mentions per year

1936-2018
19401960198020002020
Leukodystrophy
Nervous system structure
Hereditary Diseases
Adrenoleukodystrophy
LEUKOENCEPHALOPATHY, BRAIN CALCIFICATIONS, AND CYSTS
Globoid cell leukodystrophy

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
Highly Cited
2013
Highly Cited
2013
Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy.
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
C-terminal truncations in human 3′-5′ DNA exonuclease TREX1 cause autosomal dominant retinal vasculopathy with cerebral leukodystrophy
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
Lamin B1 duplications cause autosomal dominant leukodystrophy
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
Adreno-leukodystrophy: oxidative stress of mice and men.
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
Correction of metachromatic leukodystrophy in the mouse model by transplantation of genetically modified hematopoietic stem cells.
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
Allogeneic mesenchymal stem cell infusion for treatment of metachromatic leukodystrophy (MLD) and Hurler syndrome (MPS-IH)
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
Hematopoietic stem-cell transplantation in globoid-cell leukodystrophy.
BACKGROUND Globoid-cell leukodystrophy is caused by a deficiency of galactocerebrosidase, which results in progressive central… (More)
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1991
1991
Molecular basis of different forms of metachromatic leukodystrophy.
BACKGROUND Metachromatic leukodystrophy is an autosomal recessive inherited lysosomal storage disorder caused by a deficiency of… (More)
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1985
1985
Adreno-leukodystrophy (adreno-testiculo-leukomyelo-neuropathic-complex).
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 toxic metabolite in a genetic leukodystrophy.
Progressive accumulation of a cytotoxic metabolite, galactosylsphingosine (psychosine), was found in the brain of the twitcher… (More)
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