Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy
Lo SM, Liu J, Chen F, Pastores GM, Knowles J, Boxer M, Aleck K, Mistry PK. Pulmonary vascular disease in Gaucher disease: clinical spectrum, determinants of phenotype and long‐term outcomes of therapy. Journal Of Inherited Metabolic Disease 2011, 34: 643-650. PMID: 21445609, PMCID: PMC3782382, DOI: 10.1007/s10545-011-9313-9.Peer-Reviewed Original ResearchConceptsPulmonary arterial hypertensionEnzyme replacement therapySeverity Score IndexHepatopulmonary syndromeLong-term outcomesGBA1 genotypeAdjuvant therapyPreponderance of femalesImiglucerase enzyme replacement therapyType 1 Gaucher diseaseDiagnosis of GD1Pulmonary vascular complicationsPulmonary vascular diseaseMedian age 12Spleen statusArterial hypertensionVascular complicationsPatient characteristicsConsecutive patientsInitial presentationMedian ageReplacement therapyClinical spectrumVascular diseasePatientsPulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes
Lo S, Liu J, Pastores G, Knowles J, Boxer M, Korson M, Alec K, Mistry P. Pulmonary vascular disease in Gaucher disease: Genotype/Phenotype characteristics and long-term outcomes. Molecular Genetics And Metabolism 2011, 102: s25-s26. DOI: 10.1016/j.ymgme.2010.11.086.Peer-Reviewed Original Research