Clinical and genetic study of ABCB4 gene-related cholestatic liver disease in China: children and adults.

Autor: Cao, Lili¹ (AUTHOR), Ling, Xiuxin² (AUTHOR), Yan, Jianguo¹ (AUTHOR), Feng, Danni¹ (AUTHOR), Dong, Yi¹ (AUTHOR), Xu, Zhiqiang¹ (AUTHOR), Wang, Fuchuan¹ (AUTHOR), Zhu, Shishu¹ (AUTHOR), Gao, Yinjie¹ (AUTHOR), Cao, Zhenhua² (AUTHOR), Zhang, Min¹ (AUTHOR) gcmw2001@163.com

Publikováno v: Orphanet Journal of Rare Diseases. 4/12/2024, Vol. 19 Issue 1, p1-11. 11p.

Genotypic and phenotypic features of 39 Chinese patients with glycogen storage diseases type I, VI, and IX.

Autor: Yu, Jindan, Ling, Xiuxin, Chen, Lingli, Fang, Youhong, Lin, Haihua, Lou, Jingan, Ren, Yanqi, Chen, Jie

Publikováno v: Clinical Genetics; Sep2024, Vol. 106 Issue 3, p267-276, 10p

Two novel variants of the STXBP1 and CHRNB2 genes identified in a Chinese boy with refractory seizures and developmental delay.

Autor: Wang S; Department of Neurology and Development, Senior Department of Pediatrics, the Seventh Medical Center of PLA General Hospital.; Department of Neurology and Development, National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology.; Department of Neurology and Development, Beijing Key Laboratory of Pediatric Organ Failure., Cui D; Beijing GrandOmics Biosciences Co., Ltd, Beijing, China., Ling X; Beijing GrandOmics Biosciences Co., Ltd, Beijing, China., Hou Y; Department of Neurology and Development, Senior Department of Pediatrics, the Seventh Medical Center of PLA General Hospital.; Department of Neurology and Development, National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology.; Department of Neurology and Development, Beijing Key Laboratory of Pediatric Organ Failure., Sun J; Department of Neurology and Development, Senior Department of Pediatrics, the Seventh Medical Center of PLA General Hospital.; Department of Neurology and Development, National Engineering Laboratory for Birth Defects Prevention and Control of Key Technology.; Department of Neurology and Development, Beijing Key Laboratory of Pediatric Organ Failure.

Publikováno v: Psychiatric genetics [Psychiatr Genet] 2023 Oct 01; Vol. 33 (5), pp. 206-212. Date of Electronic Publication: 2023 Jun 12.