Growth impairment in individuals with citrin deficiency-Reference-Cited by-同舟云学术

Growth impairment in individuals with citrin deficiency

Published:2019-02-04 Issue:3 Volume:42 Page:501-508
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Numakura Chikahiko¹,Tamiya Gen²³,Ueki Masao³,Okada Tomoo⁴,Maisawa Shun-ichi⁵,Kojima-Ishii Kanako⁶,Murakami Jun⁷,Horikawa Reiko⁸,Tokuhara Daisuke⁹,Ito Koichi¹⁰,Adachi Masanori¹¹,Abiko Takahiro¹,Mitsui Tetsuo¹,Hayasaka Kiyoshi¹¹²^ORCID

Affiliation:

1. Department of Pediatrics; Yamagata University School of Medicine; Yamagata Japan

2. Tohoku Medical Megabank Organization; Tohoku University; Miyagi Japan

3. Statistical Genetics Team, RIKEN Center for Advanced Intelligence Project; Tokyo Japan

4. Department of Nutrition and Health Science; Kanagawa Institute of Technology; Kanagawa Japan

5. Department of Pediatrics, Morioka Children's Hospital; Morioka Japan

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

7. Division of Pediatrics and Perinatology, Faculty of Medicine; Tottori University; Yonago Japan

8. Division of Endocrinology and Metabolism; National Center for Child Health and Development; Tokyo Japan

9. Department of Pediatrics; Osaka City University Graduate School of Medicine; Osaka Japan

10. Department of Pediatrics and Neonatology, Graduate School of Medical; Sciences, Nagoya City University; Nagoya Japan

11. Department of Endocrinology and Metabolism; Kanagawa Children's Medical Center; Yokohama Japan

12. Department of Pediatrics; Miyukikai Hospital; Kaminoyama Japan

Funder

Japan Agency for Medical Research and Development

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/jimd.12051/fullpdf

Reference29 articles.

1. The gene mutated in adult-onset type II citrullinaemia encodes a putative mitochondrial carrier protein;Kobayashi;Nat Genet,1999

2. Genotypic and phenotypic features of citrin deficiency: five-year experience in a Chinese pediatric center;Song;Int J Mol Med,2011

3. New hepatic fat activates PPARalpha to maintain glucose, lipid, and cholesterol homeostasis;Chakravarthy;Cell Metab,2005

4. Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα;Komatsu;Biochim Biophys Acta,2015

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4. Case report: Three novel variants on SLC25A13 in four infants with neonatal intrahepatic cholestasis caused by citrin deficiency;Frontiers in Pediatrics;2023-03-29

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