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1: Ann Clin Lab Sci. 1981 May-Jun;11(3):274-8.Links

Inherited disorders of amino acid transport in relation to the kidney.

Buehler BA.

Cystinuria was first described in 1810. Since the initial description, a group of renal cellular transport deficit diseases has been characterized. The study of genetic diseases that create a specific aminoaciduria has expanded our knowledge of cellular structure, cellular transport, and intracellular concentration gradients. A review of the theories and experimental data obtained through investigations of the renal aminoacidurias are presented.

PMID: 7018372 [PubMed - indexed for MEDLINE]