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5. Hypoglycemic attacks and growth failure are the most common manifestations of citrin deficiency after 1 year of age. Arai-Ichinoi N; Kikuchi A; Wada Y; Sakamoto O; Kure S J Inherit Metab Dis; 2021 Jul; 44(4):838-846. PubMed ID: 33861477 [TBL] [Abstract][Full Text] [Related]
6. Simple and rapid genetic testing for citrin deficiency by screening 11 prevalent mutations in SLC25A13. Kikuchi A; Arai-Ichinoi N; Sakamoto O; Matsubara Y; Saheki T; Kobayashi K; Ohura T; Kure S Mol Genet Metab; 2012 Apr; 105(4):553-8. PubMed ID: 22277121 [TBL] [Abstract][Full Text] [Related]
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10. Mitochondrial aspartate glutamate carrier (citrin) deficiency as the cause of adult-onset type II citrullinemia (CTLN2) and idiopathic neonatal hepatitis (NICCD). Saheki T; Kobayashi K J Hum Genet; 2002; 47(7):333-41. PubMed ID: 12111366 [TBL] [Abstract][Full Text] [Related]
11. First Bulgarian case of citrin deficiency caused by one novel and one recurrent mutation in the SLC25A13 gene. Avdjieva-Tzavella DM; Ivanova MB; Todorov TP; Todorova AP; Panteleeva EI; Tincheva SS; Lazarova EA; Kathom HM; Yaneva PG; Tincheva RS Genet Couns; 2014; 25(3):271-6. PubMed ID: 25365849 [TBL] [Abstract][Full Text] [Related]
12. A novel mutation of the SLC25A13 gene in a Chinese patient with citrin deficiency detected by target next-generation sequencing. Liu G; Wei X; Chen R; Zhou H; Li X; Sun Y; Xie S; Zhu Q; Qu N; Yang G; Chu Y; Wu H; Lan Z; Wang J; Yang Y; Yi X Gene; 2014 Jan; 533(2):547-53. PubMed ID: 24161253 [TBL] [Abstract][Full Text] [Related]
13. SLC25A13 cDNA cloning analysis using peripheral blood lymphocytes facilitates the identification of a large deletion mutation: Molecular diagnosis of an infant with neonatal intrahepatic cholestasis caused by citrin deficiency. Zeng HS; Lin WX; Zhao ST; Zhang ZH; Yang HW; Chen FP; Song YZ; Yin ZN Mol Med Rep; 2016 Dec; 14(6):5189-5194. PubMed ID: 27779681 [TBL] [Abstract][Full Text] [Related]
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18. Effects of citrin deficiency in the perinatal period: feasibility of newborn mass screening for citrin deficiency. Tamamori A; Fujimoto A; Okano Y; Kobayashi K; Saheki T; Tagami Y; Takei H; Shigematsu Y; Hata I; Ozaki H; Tokuhara D; Nishimura Y; Yorifuji T; Igarashi N; Ohura T; Shimizu T; Inui K; Sakai N; Abukawa D; Miyakawa T; Matsumori M; Ban K; Kaneko H; Yamano T Pediatr Res; 2004 Oct; 56(4):608-14. PubMed ID: 15295082 [TBL] [Abstract][Full Text] [Related]
19. [SLC25A13 gene mutation analysis in a pedigree of neonatal intrahepatic cholestasis caused by citrin deficiency]. Song YZ; Ushikai M; Sheng JS; Iijima M; Kobayashi K Zhonghua Er Ke Za Zhi; 2007 Jun; 45(6):408-12. PubMed ID: 17880783 [TBL] [Abstract][Full Text] [Related]