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5. Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis. Feliubadaló L; Arbonés ML; Mañas S; Chillarón J; Visa J; Rodés M; Rousaud F; Zorzano A; Palacín M; Nunes V Hum Mol Genet; 2003 Sep; 12(17):2097-108. PubMed ID: 12915471 [TBL] [Abstract][Full Text] [Related]
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7. [Clinical study on cystinuria in children--the stone management and the prevention of calculi recurrence]. Asanuma H; Nakai H; Takeda M; Shishido S; Kawamura T; Nagakura K; Yamafuji M Nihon Hinyokika Gakkai Zasshi; 1998 Sep; 89(9):758-65. PubMed ID: 9796255 [TBL] [Abstract][Full Text] [Related]
8. Clinical and genetic analysis of patients with cystinuria in the United Kingdom. Rhodes HL; Yarram-Smith L; Rice SJ; Tabaksert A; Edwards N; Hartley A; Woodward MN; Smithson SL; Tomson C; Welsh GI; Williams M; Thwaites DT; Sayer JA; Coward RJ Clin J Am Soc Nephrol; 2015 Jul; 10(7):1235-45. PubMed ID: 25964309 [TBL] [Abstract][Full Text] [Related]
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10. [Cystinuria caused by a SLC7A9 missense mutation in Siamese-crossbred littermates in Germany]. Hilton S; Mizukami K; Giger U Tierarztl Prax Ausg K Kleintiere Heimtiere; 2017 Aug; 45(4):265-272. PubMed ID: 28585658 [TBL] [Abstract][Full Text] [Related]
11. Mutational Spectrum of CYP24A1 Gene in a Cohort of Italian Patients with Idiopathic Infantile Hypercalcemia. Gigante M; Santangelo L; Diella S; Caridi G; Argentiero L; D''Alessandro MM; Martino M; Stea ED; Ardissino G; Carbone V; Pepe S; Scrutinio D; Maringhini S; Ghiggeri GM; Grandaliano G; Giordano M; Gesualdo L Nephron; 2016; 133(3):193-204. PubMed ID: 27394135 [TBL] [Abstract][Full Text] [Related]
12. A rapid screening of a recurrent CYP24A1 pathogenic variant opens the way to molecular testing for Idiopathic Infantile Hypercalcemia (IIH). De Paolis E; Minucci A; De Bonis M; Scaglione GL; Gervasoni J; Primiano A; Ferraro PM; Cappellani D; Marcocci C; Gambaro G; Capoluongo E Clin Chim Acta; 2018 Jul; 482():8-13. PubMed ID: 29574006 [TBL] [Abstract][Full Text] [Related]
13. Molecular genetic analysis of SLC3A1 and SLC7A9 genes in Czech and Slovak cystinuric patients. Skopková Z; Hrabincová E; Stástná S; Kozák L; Adam T Ann Hum Genet; 2005 Sep; 69(Pt 5):501-7. PubMed ID: 16138908 [TBL] [Abstract][Full Text] [Related]
14. Stone growth patterns and risk for surgery among children presenting with hypercalciuria, hypocitraturia and cystinuria as underlying metabolic causes of urolithiasis. Zu'bi F; Sidler M; Harvey E; Lopes RI; Hojjat A; Naoum N; Pokarowski M; Lorenzo AJ; Farhat WA; Papanikolaou F; Dos Santos J J Pediatr Urol; 2017 Aug; 13(4):357.e1-357.e7. PubMed ID: 28865885 [TBL] [Abstract][Full Text] [Related]
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