Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous <i>ACADVL</i> Mutations-Reference-Cited by-同舟云学术

Adult-onset Repeat Rhabdomyolysis with a Very Long-chain Acyl-CoA Dehydrogenase Deficiency Due to Compound Heterozygous ACADVL Mutations

Published:2020-11-01 Issue:21 Volume:59 Page:2729-2732
ISSN:0918-2918
Container-title:Internal Medicine
language:en
Short-container-title:Intern. Med.

Author:

Fuseya Yasuhiro¹²,Sakurai Takeyo³,Miyahara Jun-ichi⁴,Sato Kei⁵,Kaji Seiji²⁶,Saito Yoshihiko⁷,Takahashi Makio⁸,Nishino Ichizo⁷,Fukuda Tokiko⁹,Sugie Hideo¹⁰,Yamashita Hirofumi⁶

Affiliation:

1. Department of Molecular and Cellular Physiology, Graduate School of Medicine, Kyoto University, Japan

2. Department of Neurology, Graduate School of Medicine, Kyoto University Hospital, Japan

3. Sakurai Clinic, Japan

4. Department of Neurology, Tominaga Hospital, Japan

5. Department of Neurology, Uji Hospital, Japan

6. Department of Neurology, Japanese Red Cross Wakayama Medical Center, Japan

7. Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Japan

8. Department of Neurology, Japanese Red Cross Osaka Hospital, Japan

9. Department of Pediatrics, Hamamatsu University School of Medicine, Japan

10. Faculty of Health and Medical Sciences, Tokoha University, Japan

Publisher

Japanese Society of Internal Medicine

Subject

General Medicine,Internal Medicine

Link

https://www.jstage.jst.go.jp/article/internalmedicine/59/21/59_4604-20/_pdf

Reference18 articles.

1. 1. Aoyama T, Uchida Y, Kelley RI, et al. A novel disease with deficiency of mitochondrial very-long-chain acyl-CoA dehydrogenase. Biochem Biophys Res Commun 191: 1369-1372, 1993.

2. 2. Arnold GL, Van Hove J, Freedenberg D, et al. A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab 96: 85-90, 2009.

3. 3. Knottnerus SJG, Bleeker JC, Wust RCI, et al. Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Rev Endocr Metab Disord 19: 93-106, 2018.

4. 4. Laforet P, Acquaviva-Bourdain C, Rigal O, et al. Diagnostic assessment and long-term follow-up of 13 patients with Very Long-Chain Acyl-Coenzyme A dehydrogenase (VLCAD) deficiency. Neuromuscul Disord 19: 324-329, 2009.

5. 5. Lilleker JB, Keh YS, Roncaroli F, Sharma R, Roberts M. Metabolic myopathies: a practical approach. Pract Neurol 18: 14-26, 2018.

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