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Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
Adant, Isabelle; Declercq, Mathias; Bird, Matthew; Bauters, Marijke; Boeckx, Nancy; Devriendt, Koen; Cassiman, David; Witters, Peter.
Affiliation
  • Adant I; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, 49 Herestraat, Leuven 3000, Belgium; Department of Pediatrics, University Hospitals Leuven, Leuven, Belgium. Electronic address: isabelle.adant@kuleuven.be.
  • Declercq M; Department of Development and Regeneration, University Hospitals Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Bird M; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Bauters M; Centre for Human Genetics, Department of Human Genetics, University of Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Boeckx N; Department of Laboratory Medicine, University Hospitals Leuven, 49 Herestraat, Leuven 3000, Belgium; Department of Oncology, Katholieke Universiteit Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Devriendt K; Centre for Human Genetics, Department of Human Genetics, University of Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Cassiman D; Laboratory of Hepatology, Department of Chronic Diseases, Metabolism and Ageing, Katholieke Universiteit Leuven, 49 Herestraat, Leuven 3000, Belgium; Metabolic Center, University Hospitals Leuven, 49 Herestraat, Leuven 3000, Belgium.
  • Witters P; Metabolic Center, University Hospitals Leuven, 49 Herestraat, Leuven 3000, Belgium.
J Hepatol ; 72(5): 1030-1032, 2020 05.
Article in En | MEDLINE | ID: mdl-32107051
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosiform Erythroderma, Congenital / Alleles / 1-Acylglycerol-3-Phosphate O-Acyltransferase / Non-alcoholic Fatty Liver Disease / Lipid Metabolism, Inborn Errors / Muscular Diseases / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: J Hepatol Journal subject: GASTROENTEROLOGIA Year: 2020 Document type: Article
Fulltext
Add to My VHL
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Ichthyosiform Erythroderma, Congenital / Alleles / 1-Acylglycerol-3-Phosphate O-Acyltransferase / Non-alcoholic Fatty Liver Disease / Lipid Metabolism, Inborn Errors / Muscular Diseases / Mutation Type of study: Diagnostic_studies / Observational_studies / Prognostic_studies Limits: Adolescent / Child / Child, preschool / Female / Humans Language: En Journal: J Hepatol Journal subject: GASTROENTEROLOGIA Year: 2020 Document type: Article