Results 91 to 100 of about 115,827,059 (170)

Slc25a13-Knockout Mice Harbor Metabolic Deficits but Fail to Display Hallmarks of Adult-Onset Type II Citrullinemia

, 2004
Adult-onset type II citrullinemia (CTLN2) is an autosomal recessive disease caused by mutations in SLC25A13, the gene encoding the mitochondrial aspartate/glutamate carrier citrin. The absence of citrin leads to a liver-specific, quantitative decrease of
Li, MX, Saheki, T, Begum, L, Sinasac, DS, Iijima, M, Robinson, BH, Kobayashi, K, Tsui, LC, Horiuchi, M, Jalil, MA, Moriyama, M   +10 more
core   +1 more source

Transient fulminant liver failure as an initial presentation in citrullinemia type I

, 2011
Citrullinemia type I (CTLN1) is a urea cycle disorder which typically presents in the neonatal period or infancy with hyperammonemia and concurrent neurologic deterioration. We report a 15-month-old female with CTLN1 who presented with encephalopathy and
Hannaneh Faghfoury, Johannes Häberle, Ogier de Baulny, H, Andreas Schulze, Häberle, J, Faghfoury, H, Schulze, A, Julian Baruteau, Baruteau, J, Helene Ogier de Baulny   +9 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  

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

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

Possible mechanism for zonisamide - induced hyperammonemia in a child with citrullinemia type 1 [PDF]

Indian Journal of Medical Sciences, 2009
AmirY Shaikh, MamtaN Muranjan, NithyaJ Gogtay, KeyaR Lahiri   +3 more
openaire   +1 more source

Steatogenesis in adult-onset type II citrullinemia is associated with down-regulation of PPARα（成人発症Ⅱ型シトルリン血症における脂肪肝はPPARαの発現低下に由来する）

, 2014
信州大学(Shinshu university)博士（医学）雑誌に発表。BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE. 1852(3):473-481 (2015); doi:10.1016/j.bbadis.2014.12.011.Thesis木村　岳史.
木村, 岳史
core  

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
core  

Liver-directed adeno-associated virus serotype 8 gene transfer rescues a lethal murine model of citrullinemia type 1. [PDF]

Gene Ther, 2013
Chandler RJ, Tarasenko TN, Cusmano-Ozog K, Sun Q, Sutton VR, Venditti CP, McGuire PJ.   +6 more
europepmc   +1 more source

Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study. [PDF]

Nutrients
Kowalik A, Głąb-Jabłońska E, Taybert J, Nogalska M, Sasin-Rokita M, Chełchowska M, Myszkowska-Ryciak J, Sykut-Cegielska J.   +7 more
europepmc   +1 more source