2008
Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring
Cox TM, Aerts JM, Belmatoug N, Cappellini MD, Dahl S, Goldblatt J, Grabowski GA, Hollak CE, Hwu P, Maas M, Martins AM, Mistry PK, Pastores GM, Tylki‐Szymanska A, Yee J, Weinreb N. Management of non‐neuronopathic Gaucher disease with special reference to pregnancy, splenectomy, bisphosphonate therapy, use of biomarkers and bone disease monitoring. Journal Of Inherited Metabolic Disease 2008, 31: 319-336. PMID: 18509745, DOI: 10.1007/s10545-008-0779-z.Peer-Reviewed Original ResearchConceptsNon-neuronopathic Gaucher diseaseLong-term disease outcomesGaucher diseaseBone marrow infiltrationManagement of pregnancyAchievable treatment goalsUse of biomarkersBisphosphonate therapyBisphosphonate treatmentMarrow infiltrationTherapeutic eraDisease management approachDisease outcomeTreatment goalsBone diseaseContemporary clinical researchEnzyme replacementBiochemical markersDisease severityClinical researchDiseaseDisease monitoringSplenectomyAppropriate usePregnancy
2005
Guidance on the use of miglustat for treating patients with type 1 Gaucher disease
Weinreb NJ, Barranger JA, Charrow J, Grabowski GA, Mankin HJ, Mistry P. Guidance on the use of miglustat for treating patients with type 1 Gaucher disease. American Journal Of Hematology 2005, 80: 223-229. PMID: 16247743, DOI: 10.1002/ajh.20504.Peer-Reviewed Original ResearchConceptsType 1 Gaucher diseaseEnzyme replacementGaucher diseaseSymptomatic patientsClinical manifestationsUse of miglustatProgressive lysosomal storage disorderHealth-related qualitySignificant side effectsIntravenous enzyme replacementAutosomal recessive deficiencyImiglucerase treatmentPulmonary manifestationsLysosomal storage disorderOral treatmentPulmonary diseasePatient managementSide effectsPatientsMiglustatLimited indicationsBeneficial effectsRecessive deficiencyPosition statementStorage disorder