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Article

Clinical, biochemical and molecular characterization of cystinuria in a cohort of 12 patients.

Clinical genetics - 1 Jan 2012

Barbosa M, Lopes A, Mota C, Martins E, Oliveira J, Alves S, De Bonis P, Mota M do Céu, Dias C, Rodrigues-Santos P, Fortuna A M, Quelhas D, Lacerda L, Bisceglia L, Cardoso M L

Abstract excerpt

Cystinuria is a rare autosomal inherited disorder characterized by impaired transport of cystine and dibasic aminoacids in the proximal renal tubule. Classically, cystinuria is classified as type I (silent heterozygotes) and non-type I (heterozygotes with urinary hyperexcretion of cystine). Molecularly, cystinuria is classified as type A (mutations on SLC3A1 gene) and type B (mutations on SLC7A9 gene). The goal...

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PMID: 21255007
DOI: 10.1111/j.1399-0004.2011.01638.x

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Source receipt: pubmed, retrieved 7 Sept 2026.

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