Results 71 to 80 of about 27,934,643 (129)

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  

Pancreatic secretory trypsin inhibitor gene is highly expressed in the liver of adult‐onset type II citrullinemia

, 1995
Deficiency of argininosuccinate synthetase (ASS) causes citrullinemia. Type II citrullinemia is found in most patients with adult-onset citrullinemia in Japan, and ASS is deficient specifically in the liver.
Keiko Kobayashi, Hiroki Terazono, Takuro Shinsato, Masanori Nakata, Takeyori Saheki   +4 more
core   +1 more source

Mri in a Case of Adult-Onset Citrullinemia

, 2009
A 42-year-old man presented with a history of repeated episodes of consciousness disturbance for 5 years. The MRI showed abnormally high signal intensities on T2-weighted images at bilateral cingulate gyri, temporal lobes and insular regions, mimicking ...
廖漢文;胡務亮, LIU, HON-MAN;HWU, WUH-LIANG   +1 more
core  

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

, 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 first ...
Chikahiko Numakura, Takeo Kato, Kentaro Toyota, Hiroshi Takahashi, Yoshiyuki Ueno, Mitsunori Yamakawa, Hiroyuki Nunoi, Hiroaki Haga, Yoshimi Takahashi, Satoru Kakizaki, Hisayoshi Watanabe, Mieko Kaneko, Kiyoshi Hayasaka, Masatomo Mori   +13 more
core   +1 more source

Electroencephalography and transcranial Doppler ultrasonography in neonatal citrullinemia

, 2014
The authors present a case of citrullinemia with a genotype of argininosuccinate synthetase (ASS1), c.380 G>A (p.R127Q)/c.380 G>A (p.R127Q), in two alleles. A 3-day-old female infant presented with status epilepticus and coma.
Ju-Hui Hsu, Jia-Yuh Chen, Pen-Hua Su, Yung-Jung Chen, Dau-Ming Niu, Inn-Chi Lee   +5 more
core   +1 more source

Glutamate and Gamma-Aminobutyric-Acid Neurotransmitter Systems in the Acute Phase of Maple Syrup Urine Disease and Citrullinemia Encephalopathies in Newborn Calves

, 1992
Cerebral cortex tissue was obtained at autopsy from neonatal Poll Hereford calves with clinically confirmed maple syrup urine disease (MSUD), neonatal Holstein-Friesian calves with clinically confirmed citrullinemia, and matched controls.
Gundlach, AL, Dennis, JA, Williams, SH, Johnston, Gar, Harper, Paw, Healy, PJ, Dodd, PR   +6 more
core   +1 more source

Slc25a13 Gene Mutations in Taiwanese Patients with Non-Viral Hepatocellular Carcinoma

, 2012
Mutations of the SLC25A13 gene, which encodes citrin, result in adult- onset type II citrullinemia CTLN2. Because CTLN2 has been associated with hepatocellular carcinoma HCC and may be involved in hepatocarcinogenesis, the objective of this study was to ...
CHANG, KUEI-WEN;CHEN, HUEY-LING;CHIEN, YIN-HSIU;CHEN, TSE-CHING, 張魁文;陳慧玲;簡穎秀;陳澤卿   +1 more
core   +1 more source

The first successful prenatal diagnosis on a Korean family with citrullinemia.

, 2000
DNA prenatal diagnosis was successfully performed on a family with citrullinemia. The father carried the G324S mutation and the mother carried the IVS6-2A > G mutation in the argininosuccinate synthase gene.
Hahn, SH, Paik, MK, Hong, KM, Yoo, OJ
core   +1 more source

No evidence of an association between lethal recessives citrullinemia, jersey haplotype 1, congenital muscular dystonia 1 and milk production and composition in Irish dairy cattle

, 2018
The purpose of this study was to ascertain if carriers of lethal recessive genetic disorders: citrullinemia, jersey haplotype1 (JH1) and congenital muscular dystonia 1 (CMD 1) were associated with positive or negative effects on milk production traits ...
Ratcliffe, Lyndsey, McClure, Jennifer, Flores, David F.G., Mullen, Michael P., Kearney, Francis, McClure, Matthew, Quigley, Katie   +6 more
core  

RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I. [PDF]

Sci Transl Med
Tálas A, Ioannidi EI, Weber Y, Haenggi T, Kulcsár PI, Zürcher N, Faccin E, Moon WJ, Kissling L, Villiger EA, Matsushita M, Rothgangl T, Janjuha S, Lin PJC, Poms M, Muramatsu H, Vadovics M, Reichmuth A, Kopf M, Pardi N, Tam YK, Häberle J, Schwank G.   +22 more
europepmc   +1 more source