2021
Lysosomal Storage Disorders in Children
Mistry P, Thurberg B, Grabowski G. Lysosomal Storage Disorders in Children. 2021, 570-592. DOI: 10.1017/9781108918978.032.Peer-Reviewed Original ResearchLiver diseasePost-transplant careFatty liver diseaseLong-term managementCare of childrenLiver transplantLysosomal storage disorderPediatric hepatologySurgical aspectsTreatment strategiesVariety of diseasesEarly diagnosisMetabolic disordersClinical practiceGenetic testingDiseaseStorage disorderImproved diagnosisHuge burdenHealthcare systemDisordersChildrenDiagnosisCareMajor advances
2019
Etiology of cirrhosis in the young
Olave MC, Gurung A, Mistry PK, Kakar S, Yeh M, Xu M, Wu TT, Torbenson M, Jain D. Etiology of cirrhosis in the young. Human Pathology 2019, 96: 96-103. PMID: 31698008, DOI: 10.1016/j.humpath.2019.09.015.Peer-Reviewed Original ResearchConceptsEtiology of cirrhosisCommon causeCryptogenic cirrhosisViral hepatitidesAge groupsMulti-institutional retrospective studyYears age group childrenIncidence of cirrhosisCause of cirrhosisFatty liver diseaseDiagnosis of cirrhosisAge group childrenCongenital cholestatic diseasesClinical chartsYounger patientsLiver diseasePathology databaseRetrospective studyCholestatic diseasePathology reportsCirrhosisMetabolic disordersPatientsScant dataYoung adults
2016
Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders
Verma J, Thomas DC, Kasper DC, Sharma S, Puri RD, Bijarnia-Mahay S, Mistry PK, Verma IC. Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders. JIMD Reports 2016, 31: 15-27. PMID: 27008195, PMCID: PMC5388645, DOI: 10.1007/8904_2016_548.Peer-Reviewed Original ResearchLysosomal storage disorderNeuronal ceroid lipofuscinosisBlood spotsDiagnostic testsConsideration of therapyStorage disorderStandard of careCommon lysosomal storage disorderMajor unmet needAccurate diagnostic testHigh consanguinity rateBlood sample transportationDried Blood SpotsIrreversible complicationsI-cell diseaseAffected patientsCostly therapiesTimely diagnosisMetabolic disordersMucopolysaccharidosis IIEconomical diagnostic testsUnmet needUtility of DBSDBS resultsSpecific biomarkers
2010
Liver transplantation for inherited metabolic disorders of the liver
Moini M, Mistry P, Schilsky ML. Liver transplantation for inherited metabolic disorders of the liver. Current Opinion In Organ Transplantation 2010, 15: 269-276. PMID: 20489626, DOI: 10.1097/mot.0b013e3283399dbd.Peer-Reviewed Original ResearchConceptsLiver transplantExtrahepatic diseaseLiver transplantationGlycogen storage disease type ICareful patient selectionOutcome of transplantationImportant therapeutic modalityMultisystemic genetic disorderMajor hepatic diseasesUrea cycle defectsGene replacement therapyHepatic complicationsSurgical managementLiver replacementMetabolic managementPatient selectionPrimary hyperoxaluriaReplacement therapyHepatic diseaseImproved outcomesTherapeutic modalitiesMetabolic disordersMetabolic diseasesTransplantLiver results