A Summary of Current Guidelines and Future Directions for Medical Management and Monitoring of Patients with Cystinuria
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DOI: 10.3390/healthcare11050674
Abstract: Cystinuria is the most common genetic cause of recurrent kidney stones. As the result of a genetic defect in proximal tubular reabsorption of filtered cystine, increased urine levels of the poorly soluble amino acid result… read more here.
Keywords: medical management; cystine; summary current; future directions ... See more keywords
Cystinuria in a 13-Month-Old Girl with Absence of Mutations in the SLC3A1 and SLC7A9 Genes
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DOI: 10.4103/ijn.ijn_46_18
Abstract: First, it is obvious that two major genes responsible for cystinuria have been identified: SLC3A1 (chromosome 2p21) encodes the heavy subunit rBAT of a renal b (0, +) transporter while SLC7A9 (chromosome 19q12) encodes its… read more here.
Keywords: absence mutations; month old; patients cystinuria; cystinuria month ... See more keywords