Lysinuric protein intolerance: Reviewing concepts on a multisystem disease
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Link
http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.c.30287/fullpdf
Reference55 articles.
1. Nitric oxide synthases: Structure, function and inhibition;Alderton;Biochemical J,2001
2. In Lysinuric Protein Intolerance system y+L activity is defective in monocytes and in GM-CSF-differentiated macrophages;Barilli;Orphanet J Rare Dis,2010
3. Renal Fanconi syndrome with ultrastructural defects in lysinuric protein intolerance;Benninga;J Inherit Metab Dis,2007
4. SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance;Borsani;Nat Genet,1999
5. Cationic amino acid transport through system y+L in erythrocytes of patients with lysinuric protein intolerance;Boyd;Pflugers Arch,2000
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