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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1-2
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pubmed:dateCreated |
2007-11-6
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pubmed:abstractText |
X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal cortex and central nervous system and is characterized by abnormally high levels of very long chain fatty acid in tissues and body fluids. The gene ABCD1, responsible for X-ALD, has been mapped on chromosome Xq28. More than 500 different mutations have been reported but no correlation between genotype and phenotype has been found.
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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 |
Dec
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pubmed:issn |
0022-510X
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
15
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pubmed:volume |
263
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
149-53
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pubmed:meshHeading |
pubmed-meshheading:17662307-ATP-Binding Cassette Transporters,
pubmed-meshheading:17662307-Adrenoleukodystrophy,
pubmed-meshheading:17662307-Adult,
pubmed-meshheading:17662307-DNA Mutational Analysis,
pubmed-meshheading:17662307-Dementia,
pubmed-meshheading:17662307-Disease Progression,
pubmed-meshheading:17662307-Family Health,
pubmed-meshheading:17662307-Female,
pubmed-meshheading:17662307-Follow-Up Studies,
pubmed-meshheading:17662307-Humans,
pubmed-meshheading:17662307-Leucine,
pubmed-meshheading:17662307-Magnetic Resonance Imaging,
pubmed-meshheading:17662307-Male,
pubmed-meshheading:17662307-Mutation,
pubmed-meshheading:17662307-Proline
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pubmed:year |
2007
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pubmed:articleTitle |
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
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pubmed:affiliation |
Department of Neurology, Comenius University, Bratislava, Slovakia.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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