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
2008
Microvillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve
Gathungu GN, Pashankar DS, Sarita-Reyes CD, Zambrano E, Reyes-Mugica M, Brueckner M, Mistry PK, Husain SZ. Microvillus Inclusion Disease Associated With Coarctation of the Aorta and Bicuspid Aortic Valve. Journal Of Clinical Gastroenterology 2008, 42: 400-403. PMID: 18277898, DOI: 10.1097/01.mcg.0000225632.07039.b6.Peer-Reviewed Original ResearchConceptsBicuspid aortic valveMicrovillus inclusion diseaseAortic valveInclusion diseaseVentricular outlet tract obstructionTract obstructionDiarrheal disordersDisease AssociatedCardiac malformationsIntestinal epitheliumCardiac phenotypeMicrovillus inclusionsCoarctationAortaDiseasePossible linkNeonatesObstructionValveMalformationsEpithelium