1David-Walek T, Niederstadt C, Rob PM, et al. Primary hyperoxaluria type 1 causing end-stage renal disease in a 45-year-old patient. Nephron, 2001,87:80-84.
4Hoppe B, Beck BB, Milliner DS. The primary hyperoxalurias [J]. Kidney Int, 2009, 75: 1264-1271.
5Purdue PE, Lumb MJ, Fox M, et al. Characterization and chromosomal mapping of a genomic clone encoding human alanine:glyoxylate aminotransferase[J]. Genomics, 1991, 10: 34- 42.
6Cregeen DP, Williams EL, Huhon S, et al. Molecular analysis of the glyoxylate reductase (GRHPR) gene and description of mutations underlying primary hyperoxaluria type 2[J]. Hum Mutat, 2003, 22: 497-506.
7Williams EL, Bockenhauer D, van't Hoff WG, et al. The enzyme 4- hydroxy- 2- oxoglutarate aldolase is deficient in primary hyperoxaluria type 3[J]. Nephrol Dial Transplant, 2012, 27: 3191-3195.
8Cochat P, Hulton SA, Acquaviva C, et al. Primary hyperoxaluria Type 1: indications for screening and guidance for diagnosis and treatment[J]. Nephrol Dial Transplant, 2012, 27: 1729-1736.
9Williams EL, Acquaviva C, Amoroso A, et al. Primary hyperoxaluria type 1: update and additional mutation analysis of the AGXT gene[J]. Hum Murat, 2009, 30: 910-917.
10Monieo CG, Rossetti S, Schwanz HA, et al. Comprehensive mutation screening in 55 probands with type 1 primary hyperoxaluria shows feasibility of a gene- based diagnosis[J]. J Am Soc Nephrol, 2007, 18: 1905-1914.
