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Lysinuric protein intolerance

*Gene map locus 14q11.2
Dibasicamino aciduria II
LPI
[Clinical features: vomiting; diarrhea; failure to thrive; hepatosplenomegaly; osteoporosis; mental retardation; alveolar proteinosis]
[Inheritance: autosomal recessive]

SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance
SP-D counteracts GM-CSF-mediated increase of granuloma formation by alveolar macrophages in lysinuric protein intolerance
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases

   
Successful whole lung lavage in pulmonary alveolar proteinosis secondary to lysinuric protein intolerance: a case report
   
Orphanet Journal of Rare Diseases
   


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Edited by Aldo Campana, April 20, 2014