2018
The Epidemiology of Rare Hereditary Metabolic Liver Diseases
Pericleous M, Kelly C, Ala A, Schilsky M. The Epidemiology of Rare Hereditary Metabolic Liver Diseases. 2018, 307-330. DOI: 10.1007/978-3-319-94355-8_17.Peer-Reviewed Original ResearchLiver diseaseRare diseaseLysosomal acid lipase deficiencyUnited States definitionMetabolic liver disordersMetabolic liver diseaseAcid lipase deficiencyΑ1-antitrypsin deficiencyIndividual liver diseasesGenotype-phenotype characterizationLiver disordersHereditary hemochromatosisWilson's diseaseDiseaseHealth CommissionLipase deficiency
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