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
2016
Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues
Desnick RJ, Barton NW, Furbish S, Grabowski GA, Karlsson S, Kolodny EH, Medin JA, Murray GJ, Mistry PK, Patterson MC, Schiffmann R, Weinreb NJ. Roscoe Owen Brady, MD: Remembrances of co-investigators and colleagues. Molecular Genetics And Metabolism 2016, 120: 1-7. PMID: 27866832, DOI: 10.1016/j.ymgme.2016.10.010.Peer-Reviewed Original Research
2011
Haematological Disorders of the Liver
Mistry P, Jain D. Haematological Disorders of the Liver. 2011, 48-69. DOI: 10.1002/9781444341294.ch4.Peer-Reviewed Original ResearchLiver diseaseHaematological disordersEnd-stage liver diseasePrimary haematological disordersPrimary liver diseaseAcute liver failureMajor clinical significanceE hepatitisLiver transplantationLiver involvementLiver failureNormal physiological interactionsErythrocyte dysfunctionClinical significanceAbnormal plateletsHaematological effectsBone marrowCoagulation pathwayDiseaseDisease statesMembrane abnormalitiesStorage diseaseDisordersLiverPhysiological interactions
2001
Metabolic liver disease
Schilsky M, Mistry P. Metabolic liver disease. Current Opinion In Gastroenterology 2001, 17: 221-231. PMID: 17031163, DOI: 10.1097/00001574-200105000-00005.Peer-Reviewed Original ResearchTherapeutic optionsAlpha-1-antitrypsin diseaseExciting new therapeutic optionsAcute liver failureNew therapeutic optionsMetabolic liver diseaseIron overload disordersLiver failureLiver diseaseLysosomal storage diseaseMetabolic diseasesWilson's diseaseOverload disordersDiseaseStorage diseaseLiverTreatmentNovel metabolic pathwaysMetabolic pathwaysReviewOptionsPathogenesisHemochromatosisPathwayDiagnosis