Výsledky vyhledávání - "adult-onset type Ⅱ citrullinemia"

Akademický článek

Adult-onset type II citrullinemia: Current insights and therapy

Autor: Hayasaka K, Numakura C

Publikováno v: The Application of Clinical Genetics, Vol Volume 11, Pp 163-170 (2018)

Kiyoshi Hayasaka,1,2 Chikahiko Numakura1 1Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan; 2Department of Pediatrics, Miyukikai Hospital, Kaminoyama, Japan Abstract: Citrin deficiency is a recessively inherited metab

Externí odkaz: https://doaj.org/article/386b4f078153438a89e1cb3c622fe03b

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シトリンケッソンショウ：セイジンハッショウシトルリンケッショウ２ガタノハッショウヨウボウオヨビセイカツノシツノカイゼンニツイテ

Publikováno v: 山形大学紀要. 医学 : 山形医学. 40(2):67-75

論文(Article)
シトリンは、主に肝臓に発現するアスパラギン酸グルタミン酸輸送体であり、肝の解糖系に不可欠なリンゴ酸－アスパラギン酸シャトルを構成する。シトリン欠損症は、�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::4a5cc706642d2326d7f8244311669087
https://yamagata.repo.nii.ac.jp/records/5549

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Akademický článek

AGC2 (Citrin) Deficiency—From Recognition of the Disease till Construction of Therapeutic Procedures

Autor: Takeyori Saheki, Mitsuaki Moriyama, Aki Funahashi, Eishi Kuroda

Publikováno v: Biomolecules, Vol 10, Iss 8, p 1100 (2020)

Can you imagine a disease in which intake of an excess amount of sugars or carbohydrates causes hyperammonemia? It is hard to imagine the intake causing hyperammonemia. AGC2 or citrin deficiency shows their symptoms following sugar/carbohydrates inta

Externí odkaz: https://doaj.org/article/9c01632737ec497694b63535af6fda9a

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Akademický článek

Medium-chain triglyceride supplementation under a low-carbohydrate formula is a promising therapy for adult-onset type II citrullinemia

Autor: Kiyoshi Hayasaka, Chikahiko Numakura, Kentaro Toyota, Satoru Kakizaki, Hisayoshi Watanabe, Hiroaki Haga, Hiroshi Takahashi, Yoshimi Takahashi, Mieko Kaneko, Mitsunori Yamakawa, Hiroyuki Nunoi, Takeo Kato, Yoshiyuki Ueno, Masatomo Mori

Publikováno v: Molecular Genetics and Metabolism Reports, Vol 1, Iss C, Pp 42-50 (2014)

Background: Citrin, encoded by SLC25A13, is a component of the malate-aspartate shuttle, which is the main NADH-transporting system in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD), which usually resolves within the fi

Externí odkaz: https://doaj.org/article/770744e4e35944e69abc7f06ff045e47

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Early treatment with medium-chain fatty acids for citrin deficiency improves the prognosis

Publikováno v: 山形大学紀要. 医学 : 山形医学. 39(1):52-60

論文(Article)
シトリン欠損症は、新生児期には、肝内胆汁うっ滞症（NICCD）、適応・代償期には、発育不全と脂質異常症（FTTDCD）、成人期には、シトルリン血症２型（CTLN2）を惹起する

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::79615816ce1b372f8b7b0da6e01bb6e6
https://yamagata.repo.nii.ac.jp/records/4956

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Pathogenesis of citrin deficiency

Publikováno v: 山形大学紀要. 医学 : 山形医学. 38(1):51-62

論文(Article)
シトリンは、SLC25A13にコードされ、主に肝臓に発現するアスパラギン酸グルタミン酸輸送体であり、リンゴ酸－アスパラギン酸シャトルを構成する。このシャトルは、肝�

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=jairo_______::ecc4da51e32e92a377554cfc7571ec15
https://yamagata.repo.nii.ac.jp/records/4820

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Food Preferences of Patients with Citrin Deficiency

Autor: Daisuke Tokuhara, Mai Okano, Toshihiro Ohura, Masahide Yazaki, Kei Murayama, Yoriko Watanabe, Yasuhiro Takeshima, Ayano Inui, Yoshiyuki Okano, Miki Okamoto

Publikováno v: Nutrients
Volume 13
Issue 9
Nutrients, Vol 13, Iss 3123, p 3123 (2021)

Citrin deficiency is characterized by a wide range of symptoms from infancy through adulthood and presents a distinct preference for a diet composed of high protein, high fat, and low carbohydrate. The present study elucidates the important criteria

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::4d6c31ca81ea7cb1ba613c28e26122ba

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