Results 71 to 80 of about 397 (122)

シトリン欠損症の治療：中鎖脂肪酸補充療法の早期導入は予後を改善する [PDF]

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。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、リンゴ酸－アスパラギン酸NADHシャトルを構成する。肝細胞は、食後の高血糖時にグルコースを取り込み、多くはグリコーゲンの合成に、一部は解糖系を介してエネルギー源および脂質の合成に利用する。肝細胞は、食後にはグルコース ...
早坂, 清
core   +1 more source

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report. [PDF]

Medicine (Baltimore), 2023
Liu J, Lin S, Guan S, Chen Q, Wang X, He Y, Qi Y, Feng J, Liu Y.   +8 more
europepmc   +1 more source

SLC25A13 Gene Analysis in Citrin Deficiency: Sixteen Novel Mutations in East Asian Patients, and the Mutation Distribution in a Large Pediatric Cohort in China [PDF]

Background:The human SLC25A13 gene encodes citrin, the liver-type mitochondrial aspartate/glutamate carrier isoform 2 (AGC2), and SLC25A13 mutations cause citrin deficiency (CD), a disease entity that encompasses different age-dependant clinical ...
Guo, Li, Chen, Feng-Ping, Long, Xiao-Ling, Saheki, Takeyori, Ma, Yan-Li, Ngu, Lock-Hock, He, Xiang-Ling, Sunada, Yoshihide, Nakatomi, Akiko, Zhang, Zhan-Hui, Lin, Wei-Xia, Song, Yuan-Zong, Deng, Mei, Soneda, Shun, Dateki, Sumito, Kobayashi, Keiko, Zhao, Xin-Jing   +16 more
core  

[Analysis of clinical and genetic variation in neonatal intrahepatic cholestasis caused by citrin deficiency]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2023
Ge LL, Chen CF, Liu L, Zheng X, Zhang XM, Zhang YD, Mei SY.   +6 more
europepmc   +1 more source

The status of adult patients with citrin deficiency in Japan: A report from the nation-wide study

Citrin deficiency is an autosomal recessive disorder caused by mutations in SLC25A13, encoding the inner mitochondrial membrane protein citrin. This disease manifests in age-dependent forms: neonatal intrahepatic cholestasis caused by citrin deficiency ...
Numakura, Chikahiko, Yazaki, Masahide, Sugawara, Keishin, Häberle, Johannes; https://orcid.org/, Shimura, Masaru, Hashimoto, Kenyu, Kido, Jun, Kuranobu, Naomi, Inui, Ayano, Nakamura, Kimitoshi, Ishido, Keinosuke   +10 more
core   +1 more source

Cholestatic Liver Failure and Hypoglycemia in a Newborn: A Mitochondrial Pathology due to Citrin Deficiency. [PDF]

Clin Case Rep
Neveu J, Butori M, Spraul A, Hinault-Boyer C, Naïmi M.   +4 more
europepmc   +1 more source

Pediatric hemorrhagic stroke in southern China: Analysis of 159 cases. [PDF]

J Int Med Res
Li W, Wu W, Shi K, Gao Y, Li X, Yang S, Liang H, Zhang Y, Zheng K, Zhu H, Peng B, Tian Y, Lin H, Chen WX.   +13 more
europepmc   +1 more source

Citrin Deficiency: Clinical and Nutritional Features. [PDF]

Nutrients, 2023
Komatsu M, Tanaka N, Kimura T, Yazaki M.
europepmc   +1 more source

Health-Related Coping Behaviors Among Parents of Children with Inborn Errors of Metabolism: A Survey by Dietary Therapy, Child Age, and Diagnostic Category. [PDF]

Int J Neonatal Screen
Matsumoto Y, Kushihashi Y, Suwa A, Tajima G.   +3 more
europepmc   +1 more source

Recurrent Hyperammonemic Encephalopathy in Adults with Citrin Deficiency: A Case Report of Two Genetically Confirmed Cases. [PDF]

J Clin Med
Pham TNQ, Vo VH, Nguyen QH, Trinh TTT, Vo TD.   +4 more
europepmc   +1 more source