Author:
Mauhin Wladimir,Habarou Florence,Gobin Stéphanie,Servais Aude,Brassier Anaïs,Grisel Coraline,Roda Célina,Pinto Graziella,Moshous Despina,Ghalim Fahd,Krug Pauline,Deltour Nelly,Pontoizeau Clément,Dubois Sandrine,Assoun Murielle,Galmiche Louise,Bonnefont Jean-Paul,Ottolenghi Chris,de Blic Jacques,Arnoux Jean-Baptiste,de Lonlay Pascale
Publisher
Springer Science and Business Media LLC
Subject
Pharmacology (medical),Genetics (clinical),General Medicine
Reference43 articles.
1. Torrents D, Mykkänen J, Pineda M, Feliubadaló L, Estévez R, de Cid R, et al. Identification of SLC7A7, encoding y + LAT-1, as the lysinuric protein intolerance gene. Nat Genet. 1999;21:293–6.
2. Borsani G, Bassi MT, Sperandeo MP, De Grandi A, Buoninconti A, Riboni M, et al. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet. 1999;21:297–301.
3. Sebastio G, Sperandeo MP, Andria G. Lysinuric protein intolerance: reviewing concepts on a multisystem disease. Am J Med Genet C Semin Med Genet. 2011;157C:54–62.
4. Ogier de Baulny H, Schiff M, Dionisi-Vici C. Lysinuric protein intolerance (LPI): A multi organ disease by far more complex than a classic urea cycle disorder. Mol Genet Metab. 2012;106:12–7.
5. Schwartz GJ, Haycock GB, Edelmann CM, Spitzer A. A simple estimate of glomerular filtration rate in children derived from body length and plasma creatinine. Pediatrics. 1976;58:259–63.
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