2021
Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment
Weinreb NJ, Camelo JS, Charrow J, McClain MR, Mistry P, Belmatoug N, investigators F. Gaucher disease type 1 patients from the ICGG Gaucher Registry sustain initial clinical improvements during twenty years of imiglucerase treatment. Molecular Genetics And Metabolism 2021, 132: 100-111. PMID: 33485799, DOI: 10.1016/j.ymgme.2020.12.295.Peer-Reviewed Original ResearchConceptsBone painNon-splenectomized patientsType 1 patientsBone crisesPlatelet countLiver volumeSubset analysisBody mass index (BMI) outcomesGaucher diseaseEarly treatment yearsInitial clinical improvementDifferent patient subsetsPre-treatment baselineLong-term treatmentEnzyme replacement therapyICGG Gaucher RegistryGD type 1 patientsImiglucerase treatmentAdult patientsClinical improvementSplenectomy statusGaucher RegistryPatient subsetsTreatment initiationNormal weight
2019
Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease
Goobie GC, Sirrs SM, Yee J, English JC, Bergeron C, Nador R, Swiston JR, Mistry PK, Paquin W, Levy RD. Lessons from lung transplantation: Cause for redefining the pathophysiology of pulmonary hypertension in gaucher disease. Respiratory Medicine Case Reports 2019, 28: 100893. PMID: 31334026, PMCID: PMC6624456, DOI: 10.1016/j.rmcr.2019.100893.Peer-Reviewed Original ResearchGaucher disease type 1Bilateral sequential lung transplantationPulmonary hypertensionLung transplantationGaucher cellsSuccessful bilateral sequential lung transplantationEnd-stage pulmonary hypertensionGroup 1 pulmonary hypertensionPre-transplant comorbiditiesPulmonary parenchymal diseasePulmonary vasodilator therapyPost-transplant courseSevere pulmonary hypertensionAcute renal failurePulmonary arterial hypertensionExtracorporeal membrane oxygenationInterstitial lung diseaseLong-term treatmentPrevious case reportsEnzyme replacement therapyDisease type 1Vasodilator therapyArterial hypertensionLung transplantPrior splenectomyEffects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment
Cox T, Charrow J, Lukina E, Mistry P, Marinakis T, Foster M, Gaemers S, Peterschmitt M. Effects of oral eliglustat on skeletal manifestations in patients with type 1 Gaucher disease: Results from four completed clinical trials after long-term treatment. Molecular Genetics And Metabolism 2019, 126: s43. DOI: 10.1016/j.ymgme.2018.12.091.Peer-Reviewed Original Research