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
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