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rdf:type |
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|
lifeskim:mentions |
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pubmed:issue |
3
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pubmed:dateCreated |
2004-9-23
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pubmed:abstractText |
Primary hyperoxaluria type 1 (PH1), an inherited cause of nephrolithiasis, is due to a functional defect of the liver-specific peroxisomal enzyme alanine:glyoxylate aminotransferase (AGT). A definitive PH1 diagnosis can be established by analyzing AGT activity in liver tissue or mutation analysis of the AGXT gene.
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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:issn |
1121-8428
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pubmed:author |
pubmed-author:ChanYan-WoYW,
pubmed-author:LaiChi-KongCK,
pubmed-author:LamChing-WanCW,
pubmed-author:LoKin-YeeKY,
pubmed-author:MakSiu-KaSK,
pubmed-author:TongGensy Mei-WahGM,
pubmed-author:TongSui-FanSF,
pubmed-author:WongAndrew Kui-ManAK,
pubmed-author:WongFrancis Kim-MingFK,
pubmed-author:WongPing-NamPN,
pubmed-author:YuenYuet-PingYP
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pubmed:issnType |
Print
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pubmed:volume |
17
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
436-40
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:15365967-Adult,
pubmed-meshheading:15365967-Child,
pubmed-meshheading:15365967-DNA Mutational Analysis,
pubmed-meshheading:15365967-Humans,
pubmed-meshheading:15365967-Hyperoxaluria,
pubmed-meshheading:15365967-Kidney Calculi,
pubmed-meshheading:15365967-Male,
pubmed-meshheading:15365967-Middle Aged,
pubmed-meshheading:15365967-Mutation,
pubmed-meshheading:15365967-Recurrence,
pubmed-meshheading:15365967-Transaminases
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pubmed:articleTitle |
Novel mutations of the AGXT gene causing primary hyperoxaluria type 1.
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pubmed:affiliation |
Department of Pathology, Princess Margaret Hospital, Hong Kong, China.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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