Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy-Reference-Cited by-同舟云学术

Thermolabile polymorphism of carnitine palmitoyltransferase 2: A genetic risk factor of overall acute encephalopathy

Published:2019-11 Issue:10 Volume:41 Page:862-869
ISSN:0387-7604
Container-title:Brain and Development
language:en
Short-container-title:Brain and Development

Author:

Shibata Akiko,Kasai Mariko,Hoshino Ai,Miyagawa Taku,Matsumoto Hiroshi,Yamanaka Gaku,Kikuchi Kenjiro,Kuki Ichiro,Kumakura Akira,Hara Shinya,Shiihara Takashi,Yamazaki Sawako,Ohta Masayasu,Yamagata Takanori,Takanashi Jun-ichi,Kubota Masaya,Oka Akira,Mizuguchi Masashi

Funder

Japan Society for the Promotion of Science

Publisher

Elsevier BV

Subject

Neurology (clinical),Developmental Neuroscience,General Medicine,Pediatrics, Perinatology and Child Health

Reference29 articles.

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3. Carnitine palmitoyltransferase II (CPT II) deficiency: Genotype-Phenotype analysis of 50 patients;Joshi;J Neurol Sci,2014

4. Thermolabile phenotype of carnitine palmitoyltransferase II variations as a predisposing factor for influenza-associated encephalopathy;Chen;FEBS Lett,2005

5. Thermal instability of compound variants of carnitine palmitoyltransferase II and impaired mitochondrial fuel utilization in influenza-associated encephalopathy;Yao;Hum Mutat,2008

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