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
2008
α1‐Antitrypsin deficiency is a possible first event in the two‐event model of transfusion‐related acute lung injury: a proposal and case report
Stack G, Tormey CA. α1‐Antitrypsin deficiency is a possible first event in the two‐event model of transfusion‐related acute lung injury: a proposal and case report. Transfusion 2008, 48: 2477-2478. PMID: 19054378, DOI: 10.1111/j.1537-2995.2008.01875.x.Peer-Reviewed Original ResearchConceptsTransfusion-related acute lung injuryAcute lung injuryΑ1-antitrypsin deficiencyLung injuryCase reportTwo-event modelFirst eventInjury
2002
A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency
Bergwitz C, Trautwein C, Brabant G, Manns MP. A patient with autoimmune hepatitis type I, Addison's disease, atrophic thyroiditis, atrophic gastritis, exocrine pancreatic insufficiency, and heterozygous α1-antitrypsin deficiency. The American Journal Of Gastroenterology 2002, 97: 1050. PMID: 12003388, DOI: 10.1111/j.1572-0241.2002.05628.x.Peer-Reviewed Original ResearchConceptsModerate alcohol consumptionAtrophic gastritisAutoimmune hepatitisAddison's diseaseAlcohol consumptionAssociation of autoimmune hepatitisAutoimmune hepatitis type IHeterozygous alpha1-antitrypsin deficiencyHeterozygous α1-Antitrypsin DeficiencyHistory of Addison's diseaseSerum alpha1-antitrypsin levelsDiagnosis of autoimmune hepatitisDecompensated liver cirrhosisDevelopment of cirrhosisSevere atrophic gastritisAdditional risk factorsAlpha1-antitrypsin deficiencyAlpha1-antitrypsin levelsΑ1-antitrypsin deficiencyAlpha1-antitrypsin geneExocrine pancreatic insufficiencyAtrophic thyroiditisHydrocortisone therapyAdrenal insufficiencyLiver biopsy
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