Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Tomohiro Ebihara; Taro Nagatomo; Yohei Sugiyama; Tomoko Tsuruoka; Yoshiteru Osone; Masaru Shimura; Makiko Tajika; Tetsuro Matsuhashi; Keiko Ichimoto; Ayako Matsunaga; Nana Akiyama; Minako Ogawa-Tominaga; Yukiko Yatsuka; Kazuhiro R Nitta; Yoshihito Kishita; Takuya Fushimi; Atsuko Imai-Okazaki; Akira Ohtake; Yasushi Okazaki; Kei Murayama

doi:10.1136/archdischild-2021-321633

Article info

PDF

Original research

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Authors

Tomohiro Ebihara Department of Neonatology, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Taro Nagatomo Department of Pediatrics, Fukuoka Red Cross Hospital, Fukuoka, Japan PubMed articles Google scholar articles
Yohei Sugiyama Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Tomoko Tsuruoka Department of Neonatology, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Yoshiteru Osone Department of Neonatology, Chiba University Hospital, Chiba, Japan PubMed articles Google scholar articles
Masaru Shimura Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Makiko Tajika Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Tetsuro Matsuhashi Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Keiko Ichimoto Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Ayako Matsunaga Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Nana Akiyama Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Minako Ogawa-Tominaga Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Yukiko Yatsuka Department of Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Kazuhiro R Nitta Department of Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Yoshihito Kishita Department of Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan Department of Life Science, Faculty of Science and Engineering, Kindai University, Higashiosaka, Osaka, Japan PubMed articles Google scholar articles
Takuya Fushimi Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles
Atsuko Imai-Okazaki Department of Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Akira Ohtake Department of Pediatrics and Clinical Genomics, Saitama Medical University, Moroyama, Saitama, Japan PubMed articles Google scholar articles
Yasushi Okazaki Department of Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Bunkyo-ku, Tokyo, Japan PubMed articles Google scholar articles
Kei Murayama Department of Metabolism, Chiba Children's Hospital, Chiba, Japan PubMed articles Google scholar articles

Correspondence to Dr Kei Murayama, Department of Metabolism, Chiba Children's Hospital, Chiba 266-0007, Japan; kmuraya{at}mri.biglobe.ne.jp

View Full Text

Citation

Ebihara T, Nagatomo T, Sugiyama Y, et al

Neonatal-onset mitochondrial disease: clinical features, molecular diagnosis and prognosis

Archives of Disease in Childhood - Fetal and Neonatal Edition 2022;107:329-334.

Publication history

Received January 14, 2021
Accepted September 14, 2021
First published October 7, 2021.

Online issue publication

April 20, 2022

Article Versions

Previous version (7 October 2021).
You are viewing the most recent version of this article.

Request permissions

If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.

Copyright information

© Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ. http://creativecommons.org/licenses/by-nc/4.0/This is an open access article distributed in accordance with the Creative Commons Attribution Non Commercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited, appropriate credit is given, any changes made indicated, and the use is non-commercial. See: http://creativecommons.org/licenses/by-nc/4.0/.

Log in using your username and password

Main menu

Log in using your username and password

You are here

Authors

Citation

Publication history

Article Versions

Request permissions

Copyright information

Read the full text or download the PDF:

Log in using your username and password