Primary hyperoxaluria Type 1, a too often missed diagnosis and potentially treatable cause of end-stage renal disease in adults: Results of the Dutch cohort

Nephrology Dialysis Transplantation

Volumn 27, Issue 10, 2012, Pages 3855-3862

  Van Der Hoeven, S M ^a   Van Woerden, C S ^a   Groothoff, J W ^a  

^a UNIVERSITY OF AMSTERDAM   (Netherlands)

Author keywords

epidemiology; genotype phenotype correlation; hyperoxaluria; pyridoxine responsiveness; renal survival

Indexed keywords

PYRIDOXINE;

ADOLESCENT; ADULT; AGED; ARTICLE; CAUSE OF DEATH; CHILD; CHRONIC KIDNEY FAILURE; COHORT ANALYSIS; DIAGNOSTIC ERROR; FOLLOW UP; GENE MUTATION; GENETIC SCREENING; GENOTYPE; HOMOZYGOSITY; HUMAN; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY FUNCTION; KIDNEY TRANSPLANTATION; LIVER TRANSPLANTATION; MAJOR CLINICAL STUDY; MUTATIONAL ANALYSIS; NEPHROLOGIST; NETHERLANDS; ONSET AGE; OXALOSIS 1; PATIENT SURVIVAL; PEDIATRIC NEPHROLOGIST; PRESCHOOL CHILD; PRIMARY HYPEROXALURIA TYPE 1; PRIORITY JOURNAL; RENAL SURVIVAL; SCHOOL CHILD; SURVIVAL; THERAPY DELAY; UROLITHIASIS;

ADOLESCENT; ADULT; AGE OF ONSET; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DELAYED DIAGNOSIS; DNA MUTATIONAL ANALYSIS; FEMALE; GENETIC ASSOCIATION STUDIES; HUMANS; HYPEROXALURIA, PRIMARY; INFANT; INFANT, NEWBORN; KIDNEY FAILURE, CHRONIC; MALE; MIDDLE AGED; NETHERLANDS; TRANSAMINASES; YOUNG ADULT;

EID: 84868525144     PISSN: 09310509     EISSN: 14602385     Source Type: Journal    
DOI: 10.1093/ndt/gfs320     Document Type: Article

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