2021
Lysosomal Storage Disorders in Children
Mistry P, Thurberg B, Grabowski G. Lysosomal Storage Disorders in Children. 2021, 570-592. DOI: 10.1017/9781108918978.032.Peer-Reviewed Original ResearchLiver diseasePost-transplant careFatty liver diseaseLong-term managementCare of childrenLiver transplantLysosomal storage disorderPediatric hepatologySurgical aspectsTreatment strategiesVariety of diseasesEarly diagnosisMetabolic disordersClinical practiceGenetic testingDiseaseStorage disorderImproved diagnosisHuge burdenHealthcare systemDisordersChildrenDiagnosisCareMajor advances
2006
Therapeutic goals in Gaucher disease
Mistry P, Germain DP. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s30-s33. PMID: 16644400, DOI: 10.1016/s0248-8663(06)80009-3.Peer-Reviewed Original ResearchConceptsGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsGaucher phenotypeTreatmentOptimal timeTolerabilityAmerican expertsSeverityCareTherapeutic goals in Gaucher disease
Mistry P, Germain D. Therapeutic goals in Gaucher disease. La Revue De Médecine Interne 2006, 27: s34-s38. DOI: 10.1016/s0248-8663(06)80010-x.Peer-Reviewed Original ResearchGaucher diseaseTherapeutic goalsType 1 Gaucher diseaseLong-life treatmentLife-threatening complicationsStandard of careRemarkable safety profileQuality of lifeBone crisesPrevent complicationsSafety profileAsymptomatic phaseDisease evolutionCareful monitoringDiseaseSkeletal damageComplicationsPatientsTreatmentOptimal timeTolerabilityAmerican expertsSeverityCare