Article
Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long-term outcomes of therapy.
Journal of inherited metabolic disease - 1 Jun 2011
Lo Sarah Michelman, Liu Jun, Chen F, Pastores G M, Knowles J, Boxer M, Aleck Kirk, Mistry Pramod K
Abstract excerpt
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 examined the long-term outcomes of imiglucerase enzyme replacement therapy (ERT) +/- adjuvant therapies in 14...
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