| 1 |
Chanarin-Dorfman Syndrome: Exceptional Liver Transplant Indication |
|
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| Claudia Sánchez-González, Belinda Sánchez Pérez, María Pérez Reyes, José Luís Fernández Aguilar, Miguel Ángel Suárez Muñoz, José Antonio Pérez Daga, Julio Santoyo Santoyo |
|
| Transplantation Proceedings. 2022; |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 2 |
Case Report: Chanarin-Dorfman Syndrome: A Novel Homozygous Mutation in ABHD5 Gene in a Chinese Case and Genotype-Phenotype Correlation Analysis |
|
|
| Bo Liang, He Huang, Jiaxiang Zhang, Gang Chen, Xiangsheng Kong, Mengting Zhu, Peiguang Wang, Lili Tang |
|
| Frontiers in Genetics. 2022; 13 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 3 |
ABHD5—A Regulator of Lipid Metabolism Essential for Diverse Cellular Functions |
|
|
| Margarita Schratter, Achim Lass, Franz P. W. Radner |
|
| Metabolites. 2022; 12(11): 1015 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 4 |
CEDNIK Syndrome: Report of an Ultra-Rare Case from India |
|
|
| Vandana Bansal, VasundharaP Tamhankar, ShilpaM Mithbawkar, ParagM Tamhankar |
|
| Neurology India. 2021; 69(6): 1861 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 5 |
Chanarin-Dorfman Syndrome: A comprehensive review |
|
|
| Erol Cakmak, Gokhan Bagci |
|
| Liver International. 2021; 41(5): 905 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 6 |
Effects of abhydrolase domain containing 5 gene (ABHD5) expression and variations on chicken fat metabolism |
|
|
| Hongjia Ouyang,Qing Liu,Jiguo Xu,Fang Zeng,Xiaolin Pang,Endashaw Jebessa,Shaodong Liang,Qinghua Nie,Xiquan Zhang |
|
| Poultry Science. 2016; 95(1): 99 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
| 7 |
Chanarin Dorfman syndrome: a case report with novel nonsense mutation |
|
|
| Neerja Gupta,Sunil Gothwal,Amit Kumar Satpathy,S. Missaglia,D. Tavian,Prasenjit Das,Dipsal Timila,Madhulika Kabra |
|
| Gene. 2016; 575(2): 359 |
|
| [Pubmed] [Google Scholar] [DOI] |
|
