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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
2
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pubmed:dateCreated |
2005-2-15
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pubmed:abstractText |
Metachromatic leukodystrophy (MLD) is a lysosomal storage disease caused by the deficiency of arylsulfatase A (ARSA). Clinically, the disease is heterogeneous with respect to the age of onset, affection of peripheral and central nervous systems, and progression.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
AIM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Feb
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pubmed:issn |
0003-9942
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
309-13
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15710861-Adult,
pubmed-meshheading:15710861-Animals,
pubmed-meshheading:15710861-Animals, Newborn,
pubmed-meshheading:15710861-Brain,
pubmed-meshheading:15710861-Cells, Cultured,
pubmed-meshheading:15710861-Cerebroside-Sulfatase,
pubmed-meshheading:15710861-Citric Acid,
pubmed-meshheading:15710861-Cricetinae,
pubmed-meshheading:15710861-DNA Mutational Analysis,
pubmed-meshheading:15710861-Electrophoresis, Gel, Pulsed-Field,
pubmed-meshheading:15710861-Endoplasmic Reticulum,
pubmed-meshheading:15710861-Evoked Potentials,
pubmed-meshheading:15710861-Exons,
pubmed-meshheading:15710861-Female,
pubmed-meshheading:15710861-Gene Expression,
pubmed-meshheading:15710861-Humans,
pubmed-meshheading:15710861-Kidney,
pubmed-meshheading:15710861-Leukodystrophy, Metachromatic,
pubmed-meshheading:15710861-Magnetic Resonance Imaging,
pubmed-meshheading:15710861-Microscopy, Electron, Transmission,
pubmed-meshheading:15710861-Mutagenesis,
pubmed-meshheading:15710861-Mutation,
pubmed-meshheading:15710861-Peripheral Nerves,
pubmed-meshheading:15710861-Phenylalanine,
pubmed-meshheading:15710861-Quaternary Ammonium Compounds,
pubmed-meshheading:15710861-Sural Nerve,
pubmed-meshheading:15710861-Transfection,
pubmed-meshheading:15710861-Valine
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pubmed:year |
2005
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pubmed:articleTitle |
Adult onset metachromatic leukodystrophy without electroclinical peripheral nervous system involvement: a new mutation in the ARSA gene.
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pubmed:affiliation |
Institute of Physiological Chemistry, University of Bonn, Bonn, Germany.
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pubmed:publicationType |
Journal Article,
Comparative Study,
Case Reports,
Research Support, Non-U.S. Gov't
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