2022
Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry
Rosenbloom BE, Cappellini MD, Weinreb NJ, Dragosky M, Revel‐Vilk S, Batista JL, Sekulic D, Mistry PK. Cancer risk and gammopathies in 2123 adults with Gaucher disease type 1 in the International Gaucher Group Gaucher Registry. American Journal Of Hematology 2022, 97: 1337-1347. PMID: 36054609, PMCID: PMC9541044, DOI: 10.1002/ajh.26675.Peer-Reviewed Original ResearchConceptsGD type 1Multiple myelomaGaucher RegistryHematological malignanciesCancer riskGeneral populationSmall single-center studiesType 1Gaucher diseaseAge-specific incidence ratesGaucher disease type 1End Results (SEER) databaseSingle-center studyDiagnosis of MGUSInternational observational studyNon-Hodgkin lymphomaCare of patientsLung cancer riskTypes of malignanciesGeneral US populationDisease type 1Precise risk estimatesUnited States populationGD1 patientsCumulative incidence
2019
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinic
2015
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States
Balwani M, Burrow TA, Charrow J, Goker-Alpan O, Kaplan P, Kishnani PS, Mistry P, Ruskin J, Weinreb N. Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States. Molecular Genetics And Metabolism 2015, 117: 95-103. PMID: 26387627, DOI: 10.1016/j.ymgme.2015.09.002.Peer-Reviewed Original ResearchConceptsGaucher disease type 1Disease type 1Type 1Oral substrate reduction therapyGaucher diseaseFirst-line therapyFirst-line treatmentTreatment of adultsCare of patientsEnzyme replacement therapyMonitoring of patientsPanel of physiciansSubstrate reduction therapyEliglustat therapyReplacement therapyMultisystem diseaseClinical trialsReduction therapyBone marrowTherapySkeletal diseaseEliglustatLysosomes of cellsDeficient activityDisease