|
|||||
|
|
Cholesterol ester storage disease with a novel LIPA mutation (L264P) that presented massive hepatomegaly: A case report |
|
| Authors: | Naomi Kuranobu Jun Murakami Ken Okamoto Rei Nishimura Kei Murayama Ayumi Takamura Toshiko Umeda Yoshikatsu Eto Susumu Kanzaki |
| Affiliation: | 1. Division of Pediatrics and Perinatology, Tottori University Faculty of Medicine, Yonago, Japan;2. Department of Metabolism, Chiba Children's Hospital, Chiba, Japan;3. Advanced Clinical Research Center, Southern TOHOKU Research Institute for Neuroscience, Fukushima, Japan |
| Abstract: | |
| Keywords: | cholesterol ester storage disease hepatosplenomegaly LIPA gene mutations lysosomal acid lipase deficiency mixed hyperlipidemia |