Adenine phosphoribosyltransferase deficiency in children

Pediatric Nephrology

Volumn 27, Issue 4, 2012, Pages 571-579

  Harambat, Jérôme ^a,d   Bollée, Guillaume ^b   Daudon, Michel ^b   Ceballos Picot, Irène ^b   Bensman, Albert ^c  

^a Hopitaux Universitaires de Bordeaux   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c ARMAND TROUSSEAU HOSPITAL   (France)

^d HÔPITAL PELLEGRIN   (France)

Author keywords

APRT deficiency; Children; Chronic kidney disease; Inborn error of purine metabolism; Nephrolithiasis

Indexed keywords

ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL; ANTIMETABOLITE;

ACUTE KIDNEY FAILURE; ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CHILD; CHILDHOOD DISEASE; CLINICAL ARTICLE; CLINICAL FEATURE; CONTROLLED STUDY; CRYSTALLURIA; ENZYME ACTIVITY; ENZYME DEFICIENCY; ERYTHROCYTE; EXTRACORPOREAL LITHOTRIPSY; FEMALE; FOLLOW UP; GENE SEQUENCE; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; KIDNEY FUNCTION; LABORATORY DIAGNOSIS; MALE; MICROSCOPY; NEPHROLITHIASIS; OUTCOME ASSESSMENT; PRESCHOOL CHILD; PRIORITY JOURNAL; RETROSPECTIVE STUDY; URETEROSCOPY; URINARY TRACT INFECTION; ADOLESCENT; ADULT; GENETICS; INBORN ERROR OF METABOLISM; INFANT; UROLITHIASIS;

ADENINE PHOSPHORIBOSYLTRANSFERASE; ADOLESCENT; ALLOPURINOL; ANTIMETABOLITES; CHILD; CHILD, PRESCHOOL; FEMALE; HUMANS; INFANT; MALE; METABOLISM, INBORN ERRORS; RETROSPECTIVE STUDIES; UROLITHIASIS; YOUNG ADULT;

EID: 84862334297     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-011-2037-0     Document Type: Article

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