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2. Cystinuria phenotyping by oral lysine and arginine loading. de Sanctis L; Bonetti G; Bruno M; De Luca F; Bisceglia L; Palacin M; Dianzani I; Ponzone A Clin Nephrol; 2001 Dec; 56(6):467-74. PubMed ID: 11770798 [TBL] [Abstract][Full Text] [Related]
3. Prospective analysis and classification of patients with cystinuria identified in a newborn screening program. Goodyer PR; Clow C; Reade T; Girardin C J Pediatr; 1993 Apr; 122(4):568-72. PubMed ID: 8463902 [TBL] [Abstract][Full Text] [Related]
4. Reference values of urinary excretion of cystine and dibasic aminoacids: classification of patients with cystinuria in the Valencian Community, Spain. Guillén M; Corella D; Cabello ML; García AM; Hernández-Yago J Clin Biochem; 1999 Feb; 32(1):25-30. PubMed ID: 10074888 [TBL] [Abstract][Full Text] [Related]
5. Biochemical and genetic studies in cystinuria: observations on double heterozygotes of genotype I-II. Morin CL; Thompson MW; Jackson SH; Sass-Kortsak A J Clin Invest; 1971 Sep; 50(9):1961-76. PubMed ID: 5564399 [TBL] [Abstract][Full Text] [Related]
6. Diagnostic and genetic studies in 43 patients with classic cystinuria. Byrd DJ; Lind M; Brodehl J Clin Chem; 1991 Jan; 37(1):68-73. PubMed ID: 1899064 [TBL] [Abstract][Full Text] [Related]
7. Urinary excretion of total cystine and the dibasic amino acids arginine, lysine and ornithine in relation to genetic findings in patients with cystinuria treated with sulfhydryl compounds. Fjellstedt E; Harnevik L; Jeppsson JO; Tiselius HG; Söderkvist P; Denneberg T Urol Res; 2003 Dec; 31(6):417-25. PubMed ID: 14586528 [TBL] [Abstract][Full Text] [Related]
8. Heterozygous cystinuria and urinary lithiasis. Giugliani R; Ferrari I; Greene LJ Am J Med Genet; 1985 Dec; 22(4):703-15. PubMed ID: 3934971 [TBL] [Abstract][Full Text] [Related]
9. [Distribution of cystinuria subtypes in the Democratic Republic of Germany]. Grimm U; Steinhauser I; Lubs H; Seidlitz G Z Urol Nephrol; 1988 Dec; 81(12):719-23. PubMed ID: 3223107 [TBL] [Abstract][Full Text] [Related]
10. The incidence of cystinuria in Japan. Ito H; Murakami M; Miyauchi T; Mori I; Yamaguchi K; Usui T; Shimazaki J J Urol; 1983 May; 129(5):1012-4. PubMed ID: 6406687 [TBL] [Abstract][Full Text] [Related]
11. Aminoaciduria resulting from cycloleucine administration in man. Brown RR Science; 1967 Jul; 157(3787):432-4. PubMed ID: 6028026 [TBL] [Abstract][Full Text] [Related]
12. The excretion of amino acids by cystinuric patients and their relatives. Crawhall JC; Purkiss P; Watts RW; Young EP Ann Hum Genet; 1969 Oct; 33(2):149-69. PubMed ID: 5383982 [No Abstract] [Full Text] [Related]
14. Amino acid excretion patterns in the offspring of a 'doubly-heterozygous' cystine stone former. Kelly S; Copeland W; Leikhim E Experientia; 1970 Dec; 26(12):1389-90. PubMed ID: 5492238 [No Abstract] [Full Text] [Related]
15. SLC7A9 mutations in all three cystinuria subtypes. Leclerc D; Boutros M; Suh D; Wu Q; Palacin M; Ellis JR; Goodyer P; Rozen R Kidney Int; 2002 Nov; 62(5):1550-9. PubMed ID: 12371955 [TBL] [Abstract][Full Text] [Related]
16. Cystinuria: genetic heterogeneity and allelism. Rosenberg LE Science; 1966 Dec; 154(3754):1341-3. PubMed ID: 5925065 [TBL] [Abstract][Full Text] [Related]
17. The renal clearance of amino acids in cystinuria. Crawhall JC; Scowen EF; Thompson CJ; Watts RW J Clin Invest; 1967 Jul; 46(7):1162-71. PubMed ID: 6027079 [TBL] [Abstract][Full Text] [Related]
18. Biochemical and clinical studies in Libyan Jewish cystinuria patients and their relatives. Pras E; Kochba I; Lubetzky A; Pras M; Sidi Y; Kastner DL Am J Med Genet; 1998 Nov; 80(2):173-6. PubMed ID: 9805137 [TBL] [Abstract][Full Text] [Related]
19. New insights into cystinuria: 40 new mutations, genotype-phenotype correlation, and digenic inheritance causing partial phenotype. Font-Llitjós M; Jiménez-Vidal M; Bisceglia L; Di Perna M; de Sanctis L; Rousaud F; Zelante L; Palacín M; Nunes V J Med Genet; 2005 Jan; 42(1):58-68. PubMed ID: 15635077 [TBL] [Abstract][Full Text] [Related]