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
2000
Inherited metabolic disease
Schilsky M, Mistry P. Inherited metabolic disease. Current Opinion In Gastroenterology 2000, 16: 219-230. PMID: 17023879, DOI: 10.1097/00001574-200005000-00004.Peer-Reviewed Original ResearchGene productsMetal metabolismGenetic disordersLysosomal storage disorderCommon lysosomal storage disorderMetabolismMetabolic diseasesStorage disorderDisease pathophysiologyDiscoveryGenesProteinGaucher diseaseNew informationTherapeutic approachesRecombinant enzyme replacement therapyWilson's diseaseIdentification
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