Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan-Reference-Cited by-同舟云学术

Clinical manifestation and long‐term outcome of citrin deficiency: Report from a nationwide study in Japan

Published:2022-02-25 Issue:3 Volume:45 Page:431-444
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J of Inher Metab Disea

Author:

Kido Jun¹²^ORCID,Häberle Johannes³,Sugawara Keishin¹,Tanaka Toju⁴,Nagao Masayoshi⁴,Sawada Takaaki¹²,Wada Yoichi⁵^ORCID,Numakura Chikahiko⁶,Murayama Kei⁷,Watanabe Yoriko⁸⁹,Kojima‐Ishii Kanako¹⁰,Sasai Hideo¹¹,Kosugiyama Kiyotaka¹²,Nakamura Kimitoshi¹²

Affiliation:

1. Department of Pediatrics Faculty of Life Sciences, Kumamoto University Kumamoto Japan

2. Department of Pediatrics Kumamoto University Hospital Kumamoto Japan

3. University Children's Hospital Zurich and Children's Research Centre Zurich Switzerland

4. Department of Pediatrics National Hospital Organization Hokkaido Medical Center Sapporo Japan

5. Department of Pediatrics Tohoku University School of Medicine Sendai Japan

6. Department of Pediatrics Yamagata University School of Medicine Yamagata Japan

7. Department of Metabolism Center for Medical Genetics, Chiba Children's Hospital Chiba Japan

8. Research Institute of Medical Mass Spectrometry Kurume University School of Medicine Kurume Japan

9. Department of Pediatrics and Child Health Kurume University School of Medicine Kurume Japan

10. Department of Pediatrics, Graduate School of Medical Sciences Kyushu University Fukuoka Japan

11. Department of Pediatrics, Graduate School of Medicine Gifu University Gifu Japan

12. Department of Pediatrics Teine Keijinkai Hospital Sapporo Japan

Funder

Ministry of Health, Labour and Welfare

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Japan Society for the Promotion of Science

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/jimd.12483

Reference38 articles.

1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein

2. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD)

3. Citrin and aralar1 are Ca2+-stimulated aspartate/glutamate transporters in mitochondria

4. Mitochondrial Fatty-Acid Oxidation Disorders

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