1999
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1999, 15: 200-207. PMID: 17023946, DOI: 10.1097/00001574-199905000-00004.Peer-Reviewed Original ResearchMetabolic diseasesCrigler-Najjar syndromeDonor hepatocytesMetabolic disordersGenetic hemochromatosisNew treatmentsHuman recipientsWilson's diseaseDiseaseBilirubin glucuronidationGene mutationsFunctional effectsTherapeutic capabilitiesTreatmentDisordersRespective gene productsPast yearTransplantationPathophysiologyMetal metabolismSyndromePathogenesisGlucuronidationHemochromatosisLiver
1998
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1998, 14: 200-207. DOI: 10.1097/00001574-199805000-00004.Peer-Reviewed Original ResearchMetabolic disordersClinical disease expressionIron overloadResponsible geneGenetic hemochromatosisMetabolic diseasesWilson's diseaseDisease expressionIron metabolismDisordersDiseaseCopper metabolismStudy of disordersNumerous recent studiesRecent studiesMetabolismPathophysiologyMolecular basisHemochromatosisClinicians
1997
Inherited metabolic disease
Schilsky M. Inherited metabolic disease. Current Opinion In Gastroenterology 1997, 13: 194-198. DOI: 10.1097/00001574-199705000-00004.Peer-Reviewed Original ResearchMutant proteinsNew insightsPathobiology of diseaseGene productsQuality control systemProtein productionMolecular studiesNew therapeutic treatmentsMolecular interactionsGenesPhysiologic functionGenetic hemochromatosisMetabolic diseasesNormal physiologic functionWilson's diseaseDiscoveryProteinCellular elementsInsightsTherapeutic treatmentBasic understandingAntitrypsin deficiencyMetabolic disordersAnimal modelsDisease