Results 91 to 100 of about 451,717 (162)

Genetic insights into unexplained infant jaundice: a study from northern Guangdong, China

Frontiers in Pediatrics
ObjectiveTo explore the genetic factors contributing to unexplained infant jaundice and evaluate the significance of gene screening related to jaundice.MethodsInfants jaundice with unknown etiology attending the neonatology and pediatrics departments of ...
Fangjian Gao, Shuyan Li, Yali Chen, Yanting Zhou, Li Hu, Jianwu Qiu, Jianwu Qiu   +6 more
doaj   +1 more source

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant

The Turkish Journal of Pediatrics
Background. 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, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay   +6 more
doaj   +1 more source

Citrin deficiency in a Romanian child living in Spain highlights the worldwide distribution of this defect and illustrates the value of nutritional therapy

, 2013
3 páginas, 1 figuraWe report citrin deficiency in a neonatal non-East-Asian patient, the ninth Caucasian reported with this disease. The association of intrahepatic cholestasis, galactosuria, very high alpha-fetoprotein and increased plasma and urine ...
Rubio, Vicente, Rausell, Dolores, Dalmau, Jaime, Vitoria, Isidro, Lopez-Montiel, Javier, Ribes, Carmen, García, Ana María   +6 more
core   +1 more source

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, Ayano Inui, Haruki Komatsu, Kazumoto Iijima, Hiroki Kondou, Ichiro Morioka, Akira Honda, Kazuhiko Bessho, Hirokazu Tsukahara, Tsuyoshi Ueno, Takashi Miida, Tohru Yorifuji, Takahiro Kodama, Kenji Ihara, Satoshi Hirayama, Shunsaku Kaji, Mariko Yagi, Zenro Kizaki   +17 more
core   +1 more source

A Comprehensive Meta-Analytical Investigation into the Incidence of Neonatal Amino Acid Metabolic Disorders Across China

International Journal of Neonatal Screening
Amino acid metabolic disorders (AAMs) are a group of inherited metabolic diseases caused by defects in enzymes or transporters involved in amino acid metabolism.
Qiongfang Yao, Shuting Huang, Fei Kong, Min Wu, Xiaolong Qiu, Peiran Zhao, Yinglin Zeng, Jinying Luo, Jinfu Zhou, Liangpu Xu   +9 more
doaj   +1 more source

Time Course of Acylcarnitine Elevation in Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency

, 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, LEE, NI-CHUNG;CHIEN, YIN-HSIU;CHEN, HUEY-LING;CHIOU, PAO-CHIN;NI, YEN-HSUAN;CHANG, MEI-HWEI;HWU, WUH-LIANG   +1 more
core  

Citrin deficiency [PDF]

, 2020
openaire   +1 more source

Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) as a cause of liver disease in infants in the UK.

, 2009
Citrin deficiency is a disorder with two phenotypes: neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD), and adult-onset type II citrullinaemia (CTLN2).
Preece, MA, Song, YZ, Saheki, T, Hendriksz, C, McClelland, V, Chakrapani, A, Iijima, M, Kobayashi, K, Hutchin, T, Okumura, F, Baumann, Ulrich, McKiernan, Patrick, P. McKiernan, T. Hutchin, M. Iijima, K. Kobayashi, A. Chakrapani, M. A. Preece, T. Saheki, F. Okumura, C. Hendriksz, V. McClelland, U. Baumann, Y.‐Z. Song   +23 more
core   +1 more source

Clinical manifestation and long-term outcome of citrin deficiency: Report from a nationwide study in Japan

Citrin deficiency is an autosomal recessive disorder caused by mutations in the SLC25A13 gene. The disease can present with age-dependent clinical manifestations: neonatal intrahepatic cholestasis by citrin deficiency (NICCD), failure to thrive, and ...
Yoichi, Wada, Kiyotaka, Kosugiyama, Yoriko, Watanabe, Johannes, Häberle, Masayoshi, Nagao, Kanako, Kojima-Ishii, Chikahiko, Numakura, Kei, Murayama, Kimitoshi, Nakamura, Hideo, Sasai, Toju, Tanaka, Keishin, Sugawara, Takaaki, Sawada, Jun, Kido   +13 more
core  

Citrin deficiency due to SLC25A13 exon deletion in a Chinese infant: A case report. [PDF]

Medicine (Baltimore), 2023
Liu J, Lin S, Guan S, Chen Q, Wang X, He Y, Qi Y, Feng J, Liu Y.   +8 more
europepmc   +1 more source