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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

Papers overview

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Review
2011
Review
2011
The intracellular free calcium concentration subserves complex signaling roles in brain. Calcium cations (Ca(2+)) regulate… 
Review
2010
Review
2010
Metachromatic leukodystrophy (MLD) is a rare lysosomal sphingolipid storage disorder, caused by a deficiency of arylsulfatase A… 
Highly Cited
2007
Highly Cited
2007
Autosomal dominant retinal vasculopathy with cerebral leukodystrophy is a microvascular endotheliopathy with middle-age onset. In… 
Highly Cited
2006
Highly Cited
2006
Metachromatic leukodystrophy (MLD) is a demyelinating lysosomal storage disorder for which new treatments are urgently needed. We… 
Highly Cited
2004
Highly Cited
2004
Gene-based delivery can establish a sustained supply of therapeutic proteins within the nervous system. For diseases… 
Review
2003
Review
2003
Axonal damage has recently been recognized to be a key predictor of outcome in a number of diverse human CNS diseases, including… 
Highly Cited
2002
Highly Cited
2002
Patients with Hurler syndrome (mucopolysaccharidosis type-IH) and metachromatic leukodystrophy (MLD) develop significant skeletal… 
Highly Cited
1999
Highly Cited
1999
Mutant NDUFV1 subunit of mitochondrial complex I causes leukodystrophy and myoclonic epilepsy