cystinuria/tyrosine

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Human cystinuria-related transporter: localization and functional characterization.

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BACKGROUND Cystinuria has been proposed to be an inherited defect of apical membrane transport systems for cystine and basic amino acids in renal proximal tubules. Although the mutations of the recently identified transporter BAT1/b(0,+)AT have been related to nontype I cystinuria, the function and

Genomic organization of a human cystine transporter gene (SLC3A1) and identification of novel mutations causing cystinuria.

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Cystinuria is a common inherited aminoaciduria that leads to recurrent cystine nephrolithiasis. Mutations in a gene encoding a renal amino acid transporter (SLC3A1) have been identified in patients with cystinuria establishing one molecular cause for the disease. To facilitate systematic screening

[Recent progress in molecular biology of inherited tubular transport abnormalities].

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Recent progress in the molecular biological approach to analysis of inherited tubular transport abnormalities is reviewed. 1) cDNAs of several mammalian proteins, related to amino acid transport in renal tubular cell, have been cloned using an expression cloning in Xenopus oocytes. One of them

Detection of inborn errors of metabolism in unselected patients from pediatric intensive care units in Porto Alegre, Brazil: evaluation of screening techniques.

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1. The present study provides an analysis of the interpretation and usefulness of mass biochemical urine screening tests currently applied to a population of severely ill children consisting of 232 unselected individuals, under various medications, held in intensive care units. 2. Testing for

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