Nephrolithiasis related to inborn metabolic diseases

Pediatric Nephrology

Volumn 25, Issue 3, 2010, Pages 415-424

  Cochat, Pierre ^a,c   Pichault, Valérie ^a   Bacchetta, Justine ^a   Dubourg, Laurence ^a   Sabot, Jean François ^a   Saban, Christine ^a   Daudon, Michel ^b   Liutkus, Aurélia ^a  

^a UNIVERSITÉ DE LYON   (France)

^b HÔPITAL NECKER ENFANTS MALADES   (France)

^c HOSPICES CIVILS DE LYON   (France)

Author keywords

Cystinuria; Fanconi syndrome; Glycogen storage disease type 1; Nephrocalcinosis; Nephrolithiasis; Primary hyperoxaluria; Purine metabolism; Pyrimidine metabolism; Uric acid; Xanthine

Indexed keywords

3 METHYLGLUTACONIC ACID; 5 OXOPROLINASE; ACETYLCYSTEINE; ADENINE PHOSPHORIBOSYLTRANSFERASE; ALLOPURINOL; BICARBONATE; CITRATE POTASSIUM; CITRATE SODIUM; GLYCERIC ACID; PENICILLAMINE; PHOSPHATE; PYRIDOXINE; RIBOSEPHOSPHATE PYROPHOSPHOKINASE; TIOPRONIN; WHEWELLITE; XANTHINE OXIDASE;

AUTOMUTILATION; BLUE DIAPER SYNDROME; CARBOHYDRATE INTOLERANCE; CRYSTALLURIA; CYSTINURIA; DIET RESTRICTION; DIFFERENTIAL DIAGNOSIS; DISEASE ASSOCIATION; DISEASE COURSE; DISORDERS OF PURINE AND PYRIMIDINE METABOLISM; DNA DETERMINATION; ENZYME ACTIVITY; ENZYME DEFICIENCY; EXTRACORPOREAL LITHOTRIPSY; FANCONI RENOTUBULAR SYNDROME; FLUID INTAKE; GLOMERULUS FILTRATION RATE; GLUCOSE TRANSPORT; GLYCOGEN STORAGE DISEASE TYPE 1; HEMODIALYSIS; HUMAN; HYPERURICEMIA; HYPERURICOSURIA; INBORN ERROR OF METABOLISM; INCIDENCE; KIDNEY CALCIFICATION; KIDNEY CYSTINE STONE; KIDNEY FAILURE; KIDNEY INJURY; KIDNEY TRANSPLANTATION; LESCH NYHAN SYNDROME; LIVER TRANSPLANTATION; MENTAL DEFICIENCY; NEPHROLITHIASIS; OXALOSIS 1; PHENOTYPE; PRIMARY HYPEROXALURIA TYPE 2; PRIORITY JOURNAL; PROGNOSIS; REVIEW; SODIUM INTAKE; STONE FORMATION; CHILD; DISORDERS OF AMINO ACID AND PROTEIN METABOLISM; GENETICS; HYPEROXALURIA; METABOLISM;

AMINO ACID METABOLISM, INBORN ERRORS; CHILD; GLYCOGEN STORAGE DISEASE TYPE I; HUMANS; HYPEROXALURIA; METABOLISM, INBORN ERRORS; NEPHROLITHIASIS; PURINE-PYRIMIDINE METABOLISM, INBORN ERRORS;

EID: 77950358460     PISSN: 0931041X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00467-008-1085-6     Document Type: Review

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