Abstract | UNLABELLED: CONCLUSION: Local factors or dysfunction of local proteins such as mutations or polymorphisms in hepatic microsomal lipase and arylacetamide deacetylase may contribute the severity of liver involvement, and steatosis may progress to cirrhosis in the early infancy in Chanarin-Dorfman syndrome.
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Authors | M Cakir, C Bruno, A Cansu, U Cobanoglu, E Erduran |
Journal | Acta paediatrica (Oslo, Norway : 1992)
(Acta Paediatr)
Vol. 99
Issue 10
Pg. 1592-4
(Oct 2010)
ISSN: 1651-2227 [Electronic] Norway |
PMID | 20528790
(Publication Type: Journal Article)
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Copyright | © 2010 The Author(s)/Journal Compilation © 2010 Foundation Acta Paediatrica. |
Chemical References |
- RNA Splice Sites
- 1-Acylglycerol-3-Phosphate O-Acyltransferase
- ABHD5 protein, human
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Topics |
- 1-Acylglycerol-3-Phosphate O-Acyltransferase
(genetics)
- Child, Preschool
- Consanguinity
- Fatty Liver
(etiology)
- Female
- Humans
- Ichthyosiform Erythroderma, Congenital
(diagnosis, diet therapy, genetics)
- Lipid Metabolism, Inborn Errors
(diagnosis, diet therapy, genetics)
- Liver Cirrhosis
- Muscular Diseases
(diagnosis, diet therapy, genetics)
- Mutation
- RNA Splice Sites
(genetics)
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