2022
Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials
Cassiman D, Mistry P, Jones S, Lachmann R, Lukina E, Prada C, Thurberg B, Wasserstein M, Foster M, Patel R, Ribes M, Underhill L, Peterschmitt M. Overlapping and divergent hepatic and lipoprotein phenotypes in untreated adults with acid sphingomyelinase deficiency versus untreated adults with Gaucher disease from two pivotal clinical trials. Molecular Genetics And Metabolism 2022, 135: s29. DOI: 10.1016/j.ymgme.2021.11.058.Peer-Reviewed Original Research
2018
Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD)
Wasserstein M, Dionisi-Vici C, Giugliani R, Hwu WL, Lidove O, Lukacs Z, Mengel E, Mistry PK, Schuchman EH, McGovern M. Recommendations for clinical monitoring of patients with acid sphingomyelinase deficiency (ASMD). Molecular Genetics And Metabolism 2018, 126: 98-105. PMID: 30514648, PMCID: PMC7249497, DOI: 10.1016/j.ymgme.2018.11.014.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyLifestyle modificationEvidence-informed consensus processMajor organ system involvementSphingomyelinase deficiencyAcid sphingomyelinaseLife style modificationDisease-specific treatmentOrgan system involvementInterdisciplinary clinical teamRare lysosomal storage diseaseEnzyme replacement therapyClinical assessment strategiesRecombinant human acid sphingomyelinaseLymph nodesDisease complicationsLiver diseasePatients' qualitySignificant morbiditySymptom managementSymptomatic treatmentClinical manifestationsReplacement therapyStyle modificationMultisystem involvement
2017
Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency
McGovern MM, Dionisi-Vici C, Giugliani R, Hwu P, Lidove O, Lukacs Z, Eugen Mengel K, Mistry PK, Schuchman EH, Wasserstein MP. Consensus recommendation for a diagnostic guideline for acid sphingomyelinase deficiency. Genetics In Medicine 2017, 19: 967-974. PMID: 28406489, PMCID: PMC5589980, DOI: 10.1038/gim.2017.7.Peer-Reviewed Original ResearchConceptsAcid sphingomyelinase deficiencyDiagnostic guidelinesSphingomyelinase deficiencyPrimary care providersTreatment/managementSpectrum of severityFatal lysosomal storage diseaseSymptom controlDisease specialistsNeurovisceral diseaseMultisystem involvementConsensus recommendationsLysosomal storage diseaseAmerican CollegeASMD patientsCare providersVisceral formEnzyme acid sphingomyelinaseMetabolic defectsEvidence baseRegular assessmentTarget tissuesStorage diseaseDisease managementLaboratory evaluation