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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 |
2005-7-15
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pubmed:abstractText |
X-linked adrenoleukodystrophy is a peroxisomial disorder caused by mutations in the ABCD1 gene. Adrenomyeloneuropathy is the second most frequent phenotype (25-46%) of this disease and classically presents in adulthood with spastic paraparesis. Female heterozygotes can be symptomatic, but they are frequently misdiagnosed as having multiple sclerosis.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
May
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pubmed:issn |
0317-1671
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:volume |
32
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
261-3
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pubmed:dateRevised |
2009-11-19
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pubmed:meshHeading |
pubmed-meshheading:16018167-ATP-Binding Cassette Transporters,
pubmed-meshheading:16018167-Adrenoleukodystrophy,
pubmed-meshheading:16018167-Amino Acid Sequence,
pubmed-meshheading:16018167-Amino Acid Substitution,
pubmed-meshheading:16018167-Chromosomes, Human, X,
pubmed-meshheading:16018167-DNA Mutational Analysis,
pubmed-meshheading:16018167-Diagnosis, Differential,
pubmed-meshheading:16018167-Exons,
pubmed-meshheading:16018167-Family Health,
pubmed-meshheading:16018167-Female,
pubmed-meshheading:16018167-Genetic Testing,
pubmed-meshheading:16018167-Humans,
pubmed-meshheading:16018167-Middle Aged,
pubmed-meshheading:16018167-Mutation, Missense,
pubmed-meshheading:16018167-Pedigree,
pubmed-meshheading:16018167-Phenotype,
pubmed-meshheading:16018167-Quebec,
pubmed-meshheading:16018167-Sex Factors
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pubmed:year |
2005
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pubmed:articleTitle |
Adrenomyeloneuropathy: report of a new mutation in a French Canadian female.
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pubmed:affiliation |
Départment des Sciences Neurologiques, CHAUQ-Hôpital Enfant-Jésus, McGill University, QC, Canada.
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pubmed:publicationType |
Journal Article,
Case Reports
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