Vitamin D metabolic pathway genes polymorphisms and vitamin D levels in association with neonatal hyperbilirubinemia in China: a single-center retrospective cohort study

por Zhou, Weiwei, Wang, Ping, Bai, Yanrui, Zhang, Ying, Shu, Jianbo, Liu, Yang
Publicado 2023

High-throughput screening reveals novel mutations in spinal muscular atrophy patients

por Zhang, Ruiping, Gu, Chunyu, Pu, Linjie, Meng, Yingtao, Shu, Jianbo, Cai, Chunquan
Publicado 2020

Variants of CAPN3 cause limb-girdle muscular dystrophy type 2A in two Chinese families

por Zheng, Jie, Xu, Xiaowei, Zhang, Xinjie, Wang, Xuetao, Shu, Jianbo, Cai, Chunquan
Publicado 2021

Association Between Methylmalonic Acid and Cognition: A Systematic Review and Meta-Analysis

por Wang, Chao, Zhang, Ying, Shu, Jianbo, Gu, Chunyu, Yu, Yuping, Liu, Wei
Publicado 2022

Case report: Is exchange transfusion a possible treatment for metabolic decompensation in neonates with methylmalonic aciduria in the setting of limited resources?

por Cui, Xiaoyu, Li, Na, Xue, Hong, Zhang, Fang, Shu, Jianbo, Liu, Yang
Publicado 2022

A novel missense in GLI3 possibly affecting one of the zinc finger domains may lead to postaxial synpolydactyly: case report

por Zou, Qianqian, Tian, Zhigang, Zheng, Jie, Zhi, Xiufang, Du, Xiaojie, Shu, Jianbo, Cai, Chunquan
Publicado 2019

Combined Malonic and Methylmalonic Aciduria Due to ACSF3 Variants Results in Benign Clinical Course in Three Chinese Patients

por Wang, Ping, Shu, Jianbo, Gu, Chunyu, Yu, Xiaoli, Zheng, Jie, Zhang, Chunhua, Cai, Chunquan
Publicado 2021

The biallelic novel pathogenic variants in AGL gene in a chinese patient with glycogen storage disease type III

por Wang, Jing, Yu, Yuping, Cai, Chunquan, Zhi, Xiufang, Zhang, Ying, Zhao, Yu, Shu, Jianbo
Publicado 2022

Clinical and Magnetic Resonance Imaging Characteristics of Pediatric Acute Disseminating Encephalomyelitis With and Without Antibodies to Myelin Oligodendrocyte Glycoprotein

por Lei, Meifang, Cui, Yaqiong, Dong, Zhaoying, Zhi, Xiufang, Shu, Jianbo, Cai, Chunquan, Li, Dong
Publicado 2022

A novel variant in ALG1 gene associated with congenital disorder of glycosylation: A case report and short literature review

por Xue, Yan, Zhao, Yiran, Wu, Bo, Shu, Jianbo, Yan, Dandan, Li, Dong, Yu, Xiaoli, Cai, Chunquan
Publicado 2023

A novel SPTB gene mutation in neonatal hereditary spherocytosis: A case report

por Liu, Yang, Zheng, Jie, Song, Li, Fang, Yulian, Sun, Chao, Li, Na, Liu, Geli, Shu, Jianbo
Publicado 2020

Rapid screening of UPB1 gene variations by high resolution melting curve analysis

por Xu, Xiaowei, Zheng, Jie, Zou, Qianqian, Wang, Chao, Zhang, Xinjie, Wang, Xuetao, Liu, Yang, Shu, Jianbo
Publicado 2021

Case Report: Identification and Functional Analysis of a Homozygous Synonymous Variant in the PLOD1 Gene in a Chinese Neonatal With the Ehlers–Danlos Syndrome

por Yan, Xiaodan, Shu, Jianbo, Nie, Yanyan, Zhang, Ying, Wang, Ping, Zhou, Weiwei, Cui, Xiaoyu, Liu, Yang
Publicado 2022

A de novo variant in CASK gene causing intellectual disability and brain hypoplasia: a case report and literature review

por Zhang, Ying, Nie, Yanyan, Mu, Yu, Zheng, Jie, Xu, Xiaowei, Zhang, Fang, Shu, Jianbo, Liu, Yang
Publicado 2022

Beware of missed diagnosis in patients with multiple genetic diseases: a case report

por Guo, Detong, Li, Xuemei, Liu, Nan, Yu, Xiaoli, Shu, Jianbo, Sheng, Wenchao, Li, Dong, Cai, Chunquan
Publicado 2022

What is the impact of a novel DEPDC5 variant on an infant with focal epilepsy: a case report

por Gu, Chunyu, Lu, Xiaowei, Ma, Jinhui, Pu, Linjie, Zhi, Xiufang, Shu, Jianbo, Li, Dong, Cai, Chunquan
Publicado 2022

Serum vitamin D(3) deficiency can affect the efficacy of sublingual immunotherapy in children with allergic rhinitis: a retrospective cohort study

por Li, Liang, Cui, Xiaojian, Zhang, Xinjie, Zheng, Lisheng, Sun, Xuyuan, Yang, Cuihong, Shu, Jianbo, Liu, Guangping
Publicado 2023

Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family

por Yan, Dandan, Chen, Shaopei, Cai, Fengying, Shu, Jianbo, Zhi, Xiufang, Zheng, Jie, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Publicado 2022

Case Report: A Case of β-Ureidopropionase Deficiency Complicated With MELAS Syndrome Caused by UPB1 Variant and Mitochondrial Gene Variant

por Shu, Jianbo, Zhi, Xiufang, Chen, Jing, Lei, Meifang, Zheng, Jie, Sheng, Wenchao, Zhang, Chunhua, Li, Dong, Cai, Chunquan
Publicado 2022

Identification of a Novel Deep Intronic Variant by Whole Genome Sequencing Combined With RNA Sequencing in a Chinese Patient With Menkes Disease

por Zhi, Xiufang, Ai, Qi, Sheng, Wenchao, Yu, Yuping, Shu, Jianbo, Yu, Changshun, Yu, Xiaoli, Li, Dong, Cai, Chunquan
Publicado 2022