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