Results 61 to 70 of about 397 (122)
The Turkish Journal of PediatricsBackground. Citrin deficiency (CD), caused by mutations in the SLC25A13 gene, is a rare autosomal recessive urea cycle disorder with variable clinical presentations depending on age.
Arzu Selamioğlu +6 more
doaj +1 more source
, 2014 Citrullinemia type 2 (citrin deficiency) is an autosomal recessive inborn error metabolism, caused by the SLC25A13 gene mutation. Citrin deficiency is associated with two clinical phenotype; neonatalonset type II citrullinemia (CTLN2), also known as ...
손, 영배 +3 more
core +1 more source
, 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 +1 more
core
, 2019 The inverse kinematics of robot manipulators is a crucial problem with respect to automatically controlling robots. In this work, a Newton-improved cyclic coordinate descent (NICCD) method is proposed, which is suitable for robots with revolute or ...
Xiao Luo +5 more
core +1 more source
, 2022 Inborn errors of metabolism (IEMs) are strongly related to abnormal growth and development in newborns and can even result in death. In total, 94,648 newborns were enrolled for expanded newborn screening using tandem mass spectrometry (MS/MS) from 2016 ...
Liyuan Deng (1644577) +7 more
core +1 more source
, 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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Cholesterol Metabolism Is Enhanced in the Liver and Brain of Children With Citrin Deficiency
, 2018 ContextCitrin-deficient infants present neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), which resolves at 12 months. Thereafter, they have normal liver function associated with hypercholesterolemia, and a preference for lipid-rich ...
Hironori Nagasaka +17 more
core +1 more source
, 2009 Citrin is a mitochondrial membrane aspartate-glutamate carrier, and citrin deficiency causes both hyperammonaemia in adults (adult-onset type II citrullinaemia, CTLN2) and neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), with ...
李妮鍾;簡穎秀;陳慧玲;邱寶琴;倪衍玄;張美惠;胡務亮 +1 more
core