Results 101 to 110 of about 451,717 (162)

Screening of nine SLC25A13 mutations: their frequency in patients with citrin deficiency and high carrier rates in Asian populations

, 2006
Deficiency of citrin encoded by SLC25A13 causes adult-onset type II citrullinemia (CTLN2) & idiopathic neonatal hepatitis (NICCD). So far we have diagnosed 126 (3) CTLN2 & 103 (4) NICCD patients in Japan (and other countries). From preliminary population
Kobayashi, Keiko; Lu, Yao Bang; Li, Meng Xian; Nishi, Ikumi; Hsiao, Kwang-Jen; Choeh, Kyuchul; Yang, Yanling; Hwu, Wuh-Liang; Reichardt, Juergen K.V.; Palmieri, Ferdinando; Okano, Yoshiyuki; Saheki, Takeyori
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Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in three Malay children

, 2010
Citrin deficiency is an autosomal recessive disorder caused by mutation in the SLC25A13 gene. It has two major phenotypes: adult-onset type II citrullinemia (CTLN2) and neonatal intrahepatic cholestatic caused by citrin deficiency (NICCD).
Niusha
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Effects of Citrin Deficiency in the Perinatal Period : Feasibility of Newborn Mass Screening for Citrin Deficiency

Effects of Citrin Deficiency in the Perinatal Period : Feasibility of Newborn Mass Screening for Citrin Deficiency
論文の内容の要旨及び論文審査の結果の要旨
openaire   +1 more source

Nicotinamide riboside rescues dysregulated glycolysis and fatty acid β-oxidation in a human hepatic cell model of citrin deficiency. [PDF]

Hum Mol Genet, 2023
Yau WW, Chen GB, Zhou J, Francisco JC, Thimmukonda NK, Li S, Singh BK, Yen PM.   +7 more
europepmc   +1 more source

Editorial: Infants with cholestasis

Frontiers in Pediatrics, 2023
Hiroo Uchida, Gregory M. Tiao, Pranavkumar Shivakumar, Kenneth K. Y. Wong, Akihiro Asai, Hizuru Amano   +5 more
doaj   +1 more source

[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

Mutation study of citrin deficiency in newborn screening

, 2013
背景 Citrin缺乏症是尿素代謝循環異常疾病之一，由於負責製造Citrin蛋白的SLC25A13基因突變而造成疾病產生。Citrin缺乏症主要有兩種症狀表現：第二型瓜胺酸血症及新生兒膽汁鬱積症。並非所有Citrin缺乏症個案在新生兒時期會出現瓜胺酸血症之症狀，因此導致Citrin缺乏症在新生兒篩檢的檢出率並不高。本實驗設計出一組SLC25A13基因突變熱點檢測搭配合原本的新生兒篩檢系統，希望能藉此提高台灣新生兒篩檢對於Citrin缺乏症之偵測率。 方法 ...
王里勻, Wang, Li-Yun
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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

Neonatal intrahepatic cholestasis associated with citrin deficiency (NICCD): a case series of 11 Malaysian patients

, 2010
Citrin deficiency, aetiologically linked to mutations of SLC25A13 gene, has two clinical phenotypes, namely adult-onset type II citrullinaemia (CTLN2) and neonatal/infantile intrahepatic cholestasis, caused by citrin deficiency (NICCD).
Hanifah, M.J.M., Kobayashi, K., Chew, H.B., Zabedah, M.Y., Balasubramaniam, S., Ngu, L.H., Keng, W.T.   +6 more
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Glycerol-3-phosphate activates ChREBP, FGF21 transcription and lipogenesis in citrin deficiency. [PDF]

Nat Metab
Tiwari V, Jin B, Sun O, Lopez Gonzalez EDJ, Chen MH, Wu X, Shah H, Zhang A, Herman MA, Spracklen CN, Goodman RP, Brenner C.   +11 more
europepmc   +1 more source