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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
4
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pubmed:dateCreated |
1977-2-16
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pubmed:abstractText |
The prospective investigation of 50 cases of possible Friedreich's ataxia has permitted the clinical and biochemical celineation of the typical disease and an hypothesis on its pathogenesis. A tentative definition of the disorder could read: "Friedreich's ataxia is a progressive degenerative disease always inherited in an autosomal recessive fashion and characterized by a cardiomyopathy and a ganglioneuropathy with dying back phenomenon. It is probably secondary to a defect in the membrane transport of taurine and beta-alanine and/or a defect in the regulation of pyruvate oxidation." The existence of two pathogenetically distinct distinct entities with the same phenotype is a strong possibility.
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:month |
Nov
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pubmed:issn |
0317-1671
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
3
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
389-97
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading | |
pubmed:year |
1976
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pubmed:articleTitle |
Friedreich's ataxia 1976-an overview.
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pubmed:publicationType |
Journal Article
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