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
Exome Sequencing in Clinical Hepatology
Vilarinho S, Mistry PK. Exome Sequencing in Clinical Hepatology. Hepatology 2019, 70: 2185-2192. PMID: 31222768, PMCID: PMC6885087, DOI: 10.1002/hep.30826.BooksConceptsWhole-exome sequencingClinical diagnosisUtility of WESCare of patientsCongenital chloride diarrheaLiver clinicLiver diseaseClinical hepatologyDefinitive diagnosisNovel genetic disorderPediatric disordersClinical relevanceChloride diarrheaSalt-wasting diseaseExome sequencingDiagnosisGenetic disordersDiseaseDisordersPractice of medicineNumerous studiesDiarrheaPatientsHepatologyClinic
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