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
1998
Genetic Hemochromatosis
Schilsky M, Sternlieb I. Genetic Hemochromatosis. Current Clinical Practice 1998, 241-247. DOI: 10.1007/978-1-4612-1808-1_18.Peer-Reviewed Original Research
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