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, August 21, 2012