Results 91 to 100 of about 2,676,573 (175)

Homozygous Slc25a13 Mutation in a Taiwanese Patient with Adult-Onset Citrullinemia Complicated with Steatosis and Hepatocellular Carcinoma

, 2009
Citrullinemia is a metabolic disorder characterized by elevated plasma concentrations of citrulline and ammonia. Adult-onset citrullinemia (type II, CTLN2) has been attributed to citrin deficiency caused by mutations in the SLC25A13 gene.
蔡靜瑋;楊智超;陳慧玲;胡務亮;吳木榮;劉高郎;吳明賢, TSAI, CHING-WEI;YANG, CHIH-CHAO;CHEN, HUEY-LING;HWU, WUH-LIANG;WU, MU-ZON;LIU, KAO-LANG;WU, MING-SHIANG   +1 more
core  

Discovery of therapeutic AGC2 modulators by combining docking, binding, and vesicle-based transport assays

Journal of Translational Medicine
Backgroud The mitochondrial Aspartate/Glutamate Carrier 2 (AGC2), encoded by the SLC25A13 gene, plays a critical role in cellular metabolism and redox balance through the malate/aspartate shuttle.
Lucas Cafferati Beltrame, Sabino Todisco, Anna Lucia Francavilla, Vincenzo Mangini, Elvira Bombino, Anna Giovanna Sciancalepore, Valeria Scaglione, Maria Noemi Sgobba, Lucia Trisolini, Luna Laera, Francesco Colella, Serena Spadone, Benny Danilo Belviso, Lorenzo Guerra, Anna De Grassi, Rocco Caliandro, Angelo De Stradis, Mariateresa Volpicella, Ciro Leonardo Pierri   +18 more
doaj   +1 more source

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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Dual rare genetic diseases in five pediatric patients: insights from next-generation diagnostic methods

Orphanet Journal of Rare Diseases
Background Clinicians traditionally aim to identify a singular explanation for the clinical presentation of a patient; however, in some cases, the diagnosis may remain elusive or fail to comprehensively explain the clinical findings.
Yupeng Liu, Xue Ma, Zhehui Chen, Ruxuan He, Yao Zhang, Hui Dong, Yanyan Ma, Tongfei Wu, Qiao Wang, Yuan Ding, Xiyuan Li, Dongxiao Li, Jinqing Song, Mengqiu Li, Ying Jin, Jiong Qin, Yanling Yang   +16 more
doaj   +1 more source

Neonatal intrahepatic cholestasis caused by citrin deficiency in two Malaysian siblings: outcome at one year of life [PDF]

, 2010
We report two Malaysian siblings with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). The younger sibling, a six-month-old Chinese girl, presented with prolonged neonatal jaundice, and was investigated for biliary atresia.
Sheng, J.S., Kobayashi, K., Thong, M.K., Boey, Christopher Chiong Meng, Ushikai, M.   +4 more
core   +1 more source

Inborn errors of metabolism and hepatic disease

, 2007
Inborn errors of metabolism (IEM) have many clinical manifestations and often prove difficult to diagnose. Hepatic disease is a common feature of many IEM, and may exist in isolation or as part of a wider clinical constellation of multisystem pathology ...
Coman, David John
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Hepatic Steatosis and Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency (Niccd) in Taiwanese Infants

, 2008
Objectives： To explore the prevalence of hepatic steatosis and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) in Taiwanese infants with idiopathic intrahepatic cholestasis.
葉俊男;鄭永銘;陳慧玲;倪衍玄;胡務亮;張美惠, YEN, JIUN-NAN;JENG, YUNG-MING;CHEN, HUEY-LING;NI, YEN-HSUAN;HWU, WUH-LIANG;CHANG, MEI-HWEI   +1 more
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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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Maternal reproductive precocity shapes immunometabolic responses to lipopolysaccharide challenge in Japanese quail offspring. [PDF]

Poult Sci
Conceição JDS, Gasparino E, Khatlab AS, Barbosa MAP, Santos VDS, da Silva LS, Bastos MS, Santana TP, Marcato SM, Ddine EMC, Zancanella VT, Brito CO, Vieira JS, Paula Del Vesco A.   +13 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