Cystinuria: Defective Intestinal Transport of Dibasic Amino Acids and Cystine*
, 1965 Samuel O. Thier +4 more
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Mutational analysis of patients with cystinuria detected by a genetic screening network: Powerful tools in understanding the several forms of the disorder [PDF]
, 1998 Russell W. Chesney
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Identification of five novel SLC3A1 (rBAT) gene mutations in Japanese cystinuria [PDF]
, 2000 Ken‐ichi Egoshi +3 more
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Functional analysis of mutations in SLC7A9, and genotype–phenotype correlation in non-Type I cystinuria [PDF]
, 2001 Mariona Font +21 more
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Clinical Course and Mutational Analysis of Patients with Cystine Stone: A Single-Center Experience. [PDF]
Biomedicines, 2023 Jeong JY +6 more
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Cystinuria in children: Distribution and frequencies of mutations in the SLC3A1 and SLC7A9 genes [PDF]
, 2002 Elke Botzenhart +9 more
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Slc7a9-deficient mice develop cystinuria non-I and cystine urolithiasis [PDF]
, 2003 Lídia Feliubadaló
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Association of primary hyperparathyroidism with cystinuria in a recurrent renal stone-forming patient [PDF]
, 2003 B. Baggio
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