Lung involvement in children with lysinuric protein intolerance
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://link.springer.com/content/pdf/10.1007/s10545-014-9777-5
Reference29 articles.
1. Barilli A, Rotoli BM, Visigalli R et al (2010) In lysinuric protein intolerance system y + L activity is defective in monocytes and in GM-CSF-differentiated macrophages. Orphanet J Rare Dis 5:32
2. Barilli A, Rotoli BM, Visigalli R et al (2012) Impaired phagocytosis in macrophages from patients affected by lysinuric protein intolerance. Mol Genet Metab 105(4):585–589
3. Borsani G, Bassi MT, Sperandeo MP et al (1999) SLC7A7, encoding a putative permease-related protein, is mutated in patients with lysinuric protein intolerance. Nat Genet 21(3):297–301
4. Carey B, Trapnell BC (2010) The molecular basis of pulmonary alveolar proteinosis. Clin Immunol 135(2):223–235
5. Ceruti M, Rodi G, Stella GM et al (2007) Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report. Orphanet J Rare Dis 2:14
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