2011
Reducing selection bias in case-control studies from rare disease registries
Cole JA, Taylor JS, Hangartner TN, Weinreb NJ, Mistry PK, Khan A. Reducing selection bias in case-control studies from rare disease registries. Orphanet Journal Of Rare Diseases 2011, 6: 61. PMID: 21910867, PMCID: PMC3200984, DOI: 10.1186/1750-1172-6-61.Peer-Reviewed Original Research
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