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Quoted phrase not found in phrase index: "Pulmonary alveolar proteinosis with hypogammaglobulinemia"
Page 1
Heterozygous Mutations in OAS1 Cause Infantile-Onset Pulmonary Alveolar Proteinosis with Hypogammaglobulinemia.
Cho K, Yamada M, Agematsu K, Kanegane H, Miyake N, Ueki M, Akimoto T, Kobayashi N, Ikemoto S, Tanino M, Fujita A, Hayasaka I, Miyamoto S, Tanaka-Kubota M, Nakata K, Shiina M, Ogata K, Minakami H, Matsumoto N, Ariga T. Cho K, et al. Am J Hum Genet. 2018 Mar 1;102(3):480-486. doi: 10.1016/j.ajhg.2018.01.019. Epub 2018 Feb 15. Am J Hum Genet. 2018. PMID: 29455859 Free PMC article.
Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar spaces and hypoxemic respiratory failure. Genetic PAP (GPAP) is caused by mutations in genes encoding surfactant proteins or genes encoding …
Pulmonary alveolar proteinosis (PAP) is characterized by accumulation of a surfactant-like substance in alveolar …
Recent advances in understanding and managing adenosine deaminase and purine nucleoside phosphorylase deficiencies.
Grunebaum E, Cohen A, Roifman CM. Grunebaum E, et al. Curr Opin Allergy Clin Immunol. 2013 Dec;13(6):630-8. doi: 10.1097/ACI.0000000000000006. Curr Opin Allergy Clin Immunol. 2013. PMID: 24113229 Review.
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar proteinosis commonly seen in ADA-deficient infants, while toxicity of purine metabolites to cerebellar Purkinje cells may lead to the atax …
Animal studies suggest that defects in surfactant metabolism by alveolar macrophages cause the pulmonary alveolar pr …