Results 81 to 90 of about 397 (122)

[Analysis of the serum bile acid profile to facilitate diagnosis and differential diagnosis of NA(+)-taurocholate cotransporting polypeptide deficiency]. [PDF]

Zhonghua Gan Zang Bing Za Zhi, 2023
Deng M, Liu R, Deng LJ, Chen R, Cai ME, Lin GZ, Qiu JW, Song YZ.   +7 more
europepmc   +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  

Application of tandem mass spectrometry for blood acylcarnitine and amino acid profiling in differentiating etiologies of neonatal cholestasis. [PDF]

Front Pediatr
Sun H, Wang Y, Wu H, Li H, Peng S, Zhang D.   +5 more
europepmc   +1 more source

Clinical characteristics and genetic analysis of neonatal intrahepatic cholestasis caused by citrin deficiency in comparison with idiopathic neonatal cholestasis. [PDF]

Zhejiang Da Xue Xue Bao Yi Xue Ban, 2021
Liu H, Li C, Li X, Yu C, He X, Miao J.
europepmc   +1 more source

Carrier Frequency and Prevalence of Citrin Deficiency in East Asians and Koreans Based on Comprehensive Analysis of Pathogenic <i>SLC25A13</i> Variants. [PDF]

Ann Lab Med
Jang MA, Heo WY, Lee JK, Kim JW, Kim SM, Jang JH, Park HD.   +6 more
europepmc   +1 more source

Etiology and clinical characteristics of infantile cholestasis: a single-center retrospective study of 326 cases. [PDF]

Front Pediatr
Tang YP, Wei XX, Xue N, Yang HY, Li H.
europepmc   +1 more source

Case Report: From coma to genetic insights: identification of a novel pathogenic variant in Chinese neonatal CTLN1. [PDF]

Front Pediatr
Deng L, Liu Y, Chen K, Qiu J, Chang L, Xia J, Wang Y.   +6 more
europepmc   +1 more source

[Full-cycle, multidisciplinary and systematic management of citrin deficiency]. [PDF]

Zhonghua Gan Zang Bing Za Zhi
Song YZ, Deng M, Guo L, Lin WX.
europepmc   +1 more source

Infantile cholestasis caused by pituitary stalk interruption syndrome: a case report and review of the literature. [PDF]

Transl Pediatr
Liao X, Liu S, Zou B, Shu S, Dong C.
europepmc   +1 more source

[Clinical application of next-generation sequencing in early screening of neonatal diseases]. [PDF]

Zhongguo Dang Dai Er Ke Za Zhi
Jiang LH, Wu BQ, Zhao ZY.
europepmc   +1 more source