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Dokumenttyp:
journal article 
Autor(en):
Cochat, P; Hulton, SA; Acquaviva, C; Danpure, CJ; Daudon, M; De Marchi, M; Fargue, S; Groothoff, J; Harambat, J; Hoppe, B; Jamieson, NV; Kemper, MJ; Mandrile, G; Marangella, M; Picca, S; Rumsby, G; Salido, E; Straub, M; van Woerden, CS; OxalEurope; Amoroso, A; Beck, BB; Berthiller, J; De Broe, M; Canoui-Poitrine, F; Cellini, B; Cochat, P; Danpure, C; Fargue, S; Groothoff, J; Guittard, L; Harambat, J; Hoppe, B; Hulton, SA; Jacob, DE; Kemper, M; Kleta, R; Latta, K; Mandrile, G; Marangella, M; di M...    »
 
Titel:
Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment. 
Abstract:
Primary hyperoxaluria Type 1 is a rare autosomal recessive inborn error of glyoxylate metabolism, caused by a deficiency of the liver-specific enzyme alanine:glyoxylate aminotransferase. The disorder results in overproduction and excessive urinary excretion of oxalate, causing recurrent urolithiasis and nephrocalcinosis. As glomerular filtration rate declines due to progressive renal involvement, oxalate accumulates leading to systemic oxalosis. The diagnosis is based on clinical and sonographic...    »
 
Zeitschriftentitel:
Nephrol Dial Transplant 
Jahr:
2012 
Band / Volume:
27 
Heft / Issue:
Seitenangaben Beitrag:
1729-36 
Sprache:
eng 
Print-ISSN:
0931-0509 
TUM Einrichtung:
Urologische Klinik und Poliklinik