p.Val452Ile mutation of the SLC25A13 gene in a Turkish patient with citrin deficiency by Berna Şeker-Yılmaz, Deniz Kör, Gökhan Tümgör, Serdar Ceylaner, Neslihan Önenli-Mungan

Subjects: “…citrin deficiency…”
Get full text

Metabolic profiles and prediction of failure to thrive of citrin deficiency with normal liver function based on metabolomics and machine learning by Peiyao Wang, Duo Zhou, Lingwei Hu, Pingping Ge, Ziyan Cen, Zhenzhen Hu, Qimin He, Kejun Zhou, Benqing Wu, Xinwen Huang

Subjects: “…Citrin deficiency…”
Get full text

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes by Yigui Zou, Yu Dai, Liang Liu, Qinghua Yang, Wenwen Li, Yilin Dong, Sicong Li, Yongwei Cheng, Dongling Dai

Subjects: “…Citrin deficiency…”
Get full text

Long-term follow-up of neurocognitive function in patients with citrin deficiency and cholestasis by Meng-Ju Melody Tsai, Jung-Chi Chang, Heng-Yu Lu, Susan Shur-Fen Gau, Yin-Hsiu Chien, Wuh-Liang Hwu, Yen-Hsuan Ni, Huey-Ling Chen, Ni-Chung Lee

Subjects: Get full text

Neonatal-onset citrin deficiency: long-term outcomes in four cases and identification of a novel variant by Arzu Selamioğlu, Şebnem Kılıç, Ayça Dilruba Aslanger, Meryem Karaca, Mehmet Cihan Balcı, Zehra Oya Uyguner, Gülden Gökçay

Subjects: “…citrin deficiency…”
Get full text