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Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy

Pulmonary arterial hypertension (PAH) and hepatopulmonary syndrome (HPS) are rare pulmonary vascular complications of type 1 Gaucher disease (GD1). We examined GBA1 genotype, spleen status, Severity Score Index (SSI), and other patient characteristics as determinants of GD/PAH-HPS phenotype. We also...

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Detalhes bibliográficos
Main Authors: Lo, Sarah Michelman, Liu, Jun, Chen, F., Pastores, G. M., Knowles, J., Boxer, M., Aleck, Kirk, Mistry, Pramod K.
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3782382/
https://ncbi.nlm.nih.gov/pubmed/21445609
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-011-9313-9
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