|
rdf:type |
|
|
lifeskim:mentions |
|
|
pubmed:issue |
3
|
|
pubmed:dateCreated |
2005-7-12
|
|
pubmed:abstractText |
Primary hyperoxaluria type 1 (PH1) is caused by the deficiency of the liver enzyme alanine:glyoxylate aminotransferase which results in increased synthesis and excretion of oxalate. The clinical manifestations of PH1 are heterogeneous with respect to the age of onset and rate of progression. The aim of this study was to investigate possible relationships between a given genotype, the biochemical profile and the clinical phenotype.
|
|
pubmed:language |
eng
|
|
pubmed:journal |
|
|
pubmed:citationSubset |
IM
|
|
pubmed:chemical |
|
|
pubmed:status |
MEDLINE
|
|
pubmed:issn |
0250-8095
|
|
pubmed:author |
pubmed-author:Becker-CohenRachelR,
pubmed-author:FeinsteinSofiaS,
pubmed-author:FrishbergYaacovY,
pubmed-author:KhatibIhabI,
pubmed-author:MandelHannaH,
pubmed-author:RinatChoniC,
pubmed-author:RoelsFrankF,
pubmed-author:RumsbyGillG,
pubmed-author:ShalataAdelA,
pubmed-author:WandersRonald J ARJ,
pubmed-author:WeismannIritI
|
|
pubmed:issnType |
Print
|
|
pubmed:volume |
25
|
|
pubmed:owner |
NLM
|
|
pubmed:authorsComplete |
Y
|
|
pubmed:pagination |
269-75
|
|
pubmed:dateRevised |
2007-2-14
|
|
pubmed:meshHeading |
pubmed-meshheading:15961946-Child,
pubmed-meshheading:15961946-Child, Preschool,
pubmed-meshheading:15961946-Disease Progression,
pubmed-meshheading:15961946-Female,
pubmed-meshheading:15961946-Genetic Heterogeneity,
pubmed-meshheading:15961946-Genotype,
pubmed-meshheading:15961946-Humans,
pubmed-meshheading:15961946-Hyperoxaluria, Primary,
pubmed-meshheading:15961946-Infant,
pubmed-meshheading:15961946-Israel,
pubmed-meshheading:15961946-Kidney Failure, Chronic,
pubmed-meshheading:15961946-Liver,
pubmed-meshheading:15961946-Male,
pubmed-meshheading:15961946-Mutation,
pubmed-meshheading:15961946-Pedigree,
pubmed-meshheading:15961946-Phenotype,
pubmed-meshheading:15961946-Transaminases
|
|
pubmed:articleTitle |
Intra-familial clinical heterogeneity: absence of genotype-phenotype correlation in primary hyperoxaluria type 1 in Israel.
|
|
pubmed:affiliation |
Division of Pediatric Nephrology, Shaare Zedek Medical Center, Jerusalem, Israel. yaacov@md.huji.ac.il
|
|
pubmed:publicationType |
Journal Article
|
