Results 151 to 160 of about 3,609 (206)

[Cystinuria].

open access: yesNefrologia : publicacion oficial de la Sociedad Espanola Nefrologia, 2003
F, Rousaud, M, PalacĂ­n, V, Nunes
openaire   +1 more source

Non-type I cystinuria caused by mutation in SLC7A9, encoding a subunit (bo,+ AT) of rBAT.

open access: yes, 1999
DE   +9 more
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Cystinuria

Seminars in Nephrology, 2008
Cystinuria is an inherited disorder characterized by the impaired reabsorption of cystine in the proximal tubule of the nephron and the gastrointestinal epithelium. The only clinically significant manifestation is recurrent nephrolithiasis secondary to the poor solubility of cystine in urine.
Aditya Mattoo, David S Goldfarb
exaly   +3 more sources

Cystinuria

open access: yes, 2012
Cystinuria is an autosomal recessive inherited aminoaciduria leading to nephrolithiasis. Although its prevalence is lower than other renal stone diseases, cystinuria requires an appropriate and specific support. Extracorporeal lithotripsy is relatively inefficient against cystine stones, thus limiting treatment options.
Letavernier, E.   +4 more
openaire   +2 more sources

Transient neonatal cystinuria

open access: yesKidney International, 2005
Transient neonatal cystinuria.BackgroundCystinuria is an inherited disorder of luminal reabsorptive transport for cystine and dibasic amino acids in the renal proximal tubule. Two cystinuria genes have been identified.
Rima Rozen, Paul Goodyer
exaly   +2 more sources

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