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
2010
A reappraisal of Gaucher disease—diagnosis and disease management algorithms
Mistry PK, Cappellini MD, Lukina E, Özsan H, Pascual S, Rosenbaum H, Solano M, Spigelman Z, Villarrubia J, Watman NP, Massenkeil G. A reappraisal of Gaucher disease—diagnosis and disease management algorithms. American Journal Of Hematology 2010, 86: 110-115. PMID: 21080341, PMCID: PMC3058841, DOI: 10.1002/ajh.21888.Peer-Reviewed Original Research