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rdf:type |
|
|
lifeskim:mentions |
|
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pubmed:issue |
3
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pubmed:dateCreated |
1981-10-25
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pubmed:abstractText |
Absence of AMP-deaminase was demonstrated by histochemical and biochemical methods in a muscle biopsy of a 25-year-old woman with facial and limb girdle myopathy. Venous ammonia failed to rise after ischaemic exercise. This patient further contributes to the variety of clinical pictures associated with AMP-deaminase deficiency. Whereas AMP-deaminase has been shown to play an essential role in the regulation of adenine nucleotide metabolism in the liver, its physiological function in muscle remains uncertain.
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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 |
|
|
pubmed:status |
MEDLINE
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pubmed:issn |
0340-5354
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pubmed:author |
|
|
pubmed:issnType |
Print
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pubmed:volume |
225
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
157-66
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pubmed:dateRevised |
2008-11-21
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pubmed:meshHeading |
pubmed-meshheading:6167680-AMP Deaminase,
pubmed-meshheading:6167680-Adult,
pubmed-meshheading:6167680-Biopsy,
pubmed-meshheading:6167680-Electromyography,
pubmed-meshheading:6167680-Facial Asymmetry,
pubmed-meshheading:6167680-Facial Paralysis,
pubmed-meshheading:6167680-Female,
pubmed-meshheading:6167680-Humans,
pubmed-meshheading:6167680-Microscopy, Electron,
pubmed-meshheading:6167680-Muscles,
pubmed-meshheading:6167680-Muscular Atrophy,
pubmed-meshheading:6167680-Neuromuscular Diseases,
pubmed-meshheading:6167680-Nucleotide Deaminases,
pubmed-meshheading:6167680-Physical Exertion
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pubmed:year |
1981
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pubmed:articleTitle |
Myoadenylate deaminase deficiency in a patient with facial and limb girdle myopathy.
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pubmed:publicationType |
Journal Article,
Case Reports,
Research Support, Non-U.S. Gov't
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