First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L-Reference-Cited by-同舟云学术

First Japanese Case of Carnitine Palmitoyltransferase II Deficiency with the Homozygous Point Mutation S113L

Published:2016 Issue:18 Volume:55 Page:2659-2661
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Shima Atsushi¹,Yasuno Tetsuhiko²,Yamada Kenji³,Yamaguchi Miyoko⁴,Kohno Ryuichi¹,Yamaguchi Seiji³,Kido Hiroshi⁴,Fukuda Hidetoshi¹

Affiliation:

1. Department of Neurology, Saiseikai Noe Hospital, Japan

2. Department of Nephrology and Rheumatology, Department of Internal Medicine, Fukuoka University School of Medicine, Japan

3. Department of Pediatrics, School of Medicine, University of Shimane, Japan

4. Institute of Enzyme Research, Tokushima University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/55/18/55_55.6288/_pdf

Reference10 articles.

1. 1. Rettinger A, Gempel K, Hofmann S, Gerbitz KD, Bauer MF. Tandem mass spectrometric assay for the determination of carnitine palmitoyltransferase II activity in muscle tissue. Anal Biochem 302: 246-251, 2002.

2. 2. Joshi PR, Deschauer M, Zierz S. Carnitine palmitoyltransferase II (CPT II) deficiency: genotype-phenotype analysis of 50 patients. J Neurol Sci 338: 107-111, 2014.

3. 3. Yasuno T, Kaneoka H, Tokuyasu T, et al. Mutations of carnitine palmitoyltransferase II (CPT II) in Japanese patients with CPT II deficiency. Clin Genet 73: 496-501, 2008.

4. 4. Matsumoto S, Arai N, Suzuki K, et al. A case of myopathic form of carnitine palmitoyltransferase II deficiency with a novel mutation. Nippon Shonika Gakkai Zasshi (Journal of the Japan Pediatric Society) 113: 1409-1412, 2009 (in Japanese, Abstract in English).

5. 5. Roe CR, Yang BZ, Brunengraber H, Roe DS, Wallace M, Garritson BK. Carnitine palmitoyltransferase II deficiency: successful anaplerotic diet therapy. Neurology 71: 260-264, 2008.

Cited by 10 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Case Report: Carnitine Palmitoyl Transferase II (CPT II) Deficiency;Open Journal of Internal Medicine;2024

2. Targeted Therapies for Metabolic Myopathies Related to Glycogen Storage and Lipid Metabolism: a Systematic Review and Steps Towards a ‘Treatabolome’;Journal of Neuromuscular Diseases;2021-05-13

3. Need for strict clinical management of patients with carnitine palmitoyltransferase II deficiency: Experience with two cases detected by expanded newborn screening;Molecular Genetics and Metabolism Reports;2020-09

4. Efficacy of bezafibrate in two patients with mitochondrial trifunctional protein deficiency;Molecular Genetics and Metabolism Reports;2020-09

5. Bezafibrate In Vivo Administration Prevents 3-Methylglutaric Acid-Induced Impairment of Redox Status, Mitochondrial Biogenesis, and Neural Injury in Brain of Developing Rats;Neurotoxicity Research;2019-03-09