From gene to disease; primary hyperoxaluria type 1 caused by mutations in the AGXT gene;Van gen naar ziekte; primaire hyperoxalurie type 1 door mutaties in het AGXT-gen

Nederlands Tijdschrift voor Geneeskunde

Volumn 150, Issue 30, 2006, Pages 1669-1672

  Van Woerden, C S ^a   Groothoff, J W ^a   Wanders, R J A ^a,b   Waterham, H R ^c   Wijburg, F A ^a  

^a ACADEMIC MEDICAL CENTER   (Netherlands)

^b Afd Klinische Chemie   (Netherlands)

^c UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE AMINOTRANSFERASE; ALANINE GLYOXILATE AMINOTRANSFERASE; ARGININE; GLYCINE; GLYCOLIC ACID; GLYOXYLIC ACID; LIVER ENZYME; OXALIC ACID; PHENYLALANINE; PYRIDOXINE; UNCLASSIFIED DRUG;

AGXT GENE; ARTICLE; CHROMOSOME 2Q; CONGENITAL DISORDER; CRYSTALLIZATION; ENZYME DEFICIENCY; GENE; GENE IDENTIFICATION; GENE LOCATION; GENE MUTATION; GENETIC DISORDER; HOMOZYGOSITY; HUMAN; KIDNEY FAILURE; KIDNEY FUNCTION; LIVER PARENCHYMA; LONG TERM CARE; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; OXALOSIS 1; URINARY EXCRETION;

HUMANS; HYPEROXALURIA, PRIMARY; KIDNEY CALCULI; MUTATION; TRANSAMINASES;

EID: 33746825827     PISSN: 00282162     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (9)

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