Molecular aetiology of primary hyperoxaluria and its implications for clinical management

Expert Reviews in Molecular Medicine

Volumn 6, Issue 1, 2004, Pages

  Danpure, Christopher J ^a   Rumsby, Gill ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b UNIVERSITY COLLEGE HOSPITAL   (United Kingdom)

Author keywords

AGXT gene; Alanine:glyoxylate aminotransferase deficiency; Calcium oxalate kidney stone disease; Glyoxylate reductase hydroxypyruvate dehydrogenase deficiency; GRHPR gene; Kidney disease; Oxalate; Oxalosis 1 2; Primary hyperoxaluria types 1 2

Indexed keywords

ALANINE GLYOXYLATE AMINOTRANSFERASE; AMINO ACID; CALCIUM OXALATE; GLYOXYLATE REDUCTASE; GLYOXYLIC ACID; HYDROXYPYRUVATE REDUCTASE; OXIDOREDUCTASE; UNCLASSIFIED DRUG; ALANINE-GLYOXYLATE TRANSAMINASE; ALCOHOL DEHYDROGENASE; AMINOTRANSFERASE;

AGXT GENE; AUTOSOMAL RECESSIVE INHERITANCE; CRYSTAL STRUCTURE; ENZYME CONFORMATION; ENZYME DEFICIENCY; ENZYME REPLACEMENT; GENE; GENE MUTATION; GENETIC POLYMORPHISM; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LIVER BIOPSY; LIVER TRANSPLANTATION; NEPHROLITHIASIS; NONHUMAN; OXALOSIS; OXALOSIS 1; OXALOSIS 2; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; REVIEW; ANIMAL; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; ENZYMOLOGY; GENETICS; GENOTYPE; METABOLISM; MUTATION; PHENOTYPE; PROTEIN CONFORMATION;

ALCOHOL OXIDOREDUCTASES; ANIMALS; CALCIUM OXALATE; CELL LINE; GENOTYPE; HUMANS; HYDROXYPYRUVATE REDUCTASE; HYPEROXALURIA, PRIMARY; MODELS, MOLECULAR; MUTATION; PHENOTYPE; POLYMORPHISM, GENETIC; PROTEIN CONFORMATION; TRANSAMINASES;

EID: 4744370967     PISSN: 14623994     EISSN: None     Source Type: Journal    
DOI: 10.1017/S1462399404007203     Document Type: Review

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