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Two cases of non-alcoholic fatty liver disease caused by biallelic ABHD5 mutations.
- Source :
-
Journal of hepatology [J Hepatol] 2020 May; Vol. 72 (5), pp. 1030-1032. Date of Electronic Publication: 2020 Feb 24. - Publication Year :
- 2020
-
Abstract
- Competing Interests: Conflict of interest The authors declare no conflicts of interest that pertain to this work. Please refer to the accompanying ICMJE disclosure forms for further details.
- Subjects :
- Adolescent
Child
Child, Preschool
Creatine Kinase blood
Diagnosis, Differential
Female
Follow-Up Studies
Humans
Liver pathology
Non-alcoholic Fatty Liver Disease blood
Non-alcoholic Fatty Liver Disease pathology
Phenotype
Siblings
Transaminases blood
1-Acylglycerol-3-Phosphate O-Acyltransferase genetics
Alleles
Ichthyosiform Erythroderma, Congenital diagnosis
Ichthyosiform Erythroderma, Congenital genetics
Lipid Metabolism, Inborn Errors diagnosis
Lipid Metabolism, Inborn Errors genetics
Muscular Diseases diagnosis
Muscular Diseases genetics
Mutation
Non-alcoholic Fatty Liver Disease diagnosis
Non-alcoholic Fatty Liver Disease genetics
Subjects
Details
- Language :
- English
- ISSN :
- 1600-0641
- Volume :
- 72
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Journal of hepatology
- Publication Type :
- Report
- Accession number :
- 32107051
- Full Text :
- https://doi.org/10.1016/j.jhep.2019.12.013