Yu-qin Zhang

Clinical and genetic analysis of 7 Chinese patients with β-ureidopropionase deficiency

Chun-quan Cai, Chunhua Zhang, Bei Sun, 2019, Medicine.

Case Report: Recurrent Hemiplegic Migraine Attacks Accompanied by Intractable Hypomagnesemia Due to a de novo TRPM7 Gene Variant

Dong Li, P. Wang, Chun-quan Cai, 2022, Frontiers in Pediatrics.

Report of the Largest Chinese Cohort With SLC19A3 Gene Defect and Literature Review

X. Bao, Ruifeng Xu, Dan Sun, 2021, Frontiers in Genetics.

[Analysis of UPB1 gene mutation in a family affected with beta-ureidopropinoase deficiency].

Haiquan Xu, Jing-Ning Huang, Chunhua Zhang, 2015, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Genetic analysis of the UPB1 gene in two new Chinese families with β-ureidopropionase deficiency and the carrier frequency of the mutation c.977G>A in Northern China

Haiquan Xu, Chunhua Zhang, Jianbo Shu, 2014, Child's Nervous System.

Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review.

Dong Li, Chunhua Zhang, Dandan Wang, 2019, European journal of medical genetics.

[Clinical analysis of 15 851 children at risk of inherited metabolic diseases].

Dandan Wang, Shu-xiang Lin, Jianbo Shu, 2017, Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics.

Neurofibromatosis Type I with Infantile Spasm as Initial Symptom: A Case Report and Literature Review

Yu-qin Zhang, Qing Li, 2019 .

Rapid screening of MMACHC gene mutations by high‐resolution melting curve analysis

Wei Guo, Chun-quan Cai, Jie Zheng, 2020, Molecular genetics & genomic medicine.

A Novel Two-Nucleotide Deletion of MMADHC Gene Causing cblD Disease in a Chinese Family

C. Cai, Shu-xiang Lin, Jianbo Shu, 2018, Chinese medical journal.

[Analysis of ALDH5A1 gene mutation in a Chinese Han family with succinic semialdehyde dehydrogenase deficiency].

Jianbo Shu, Ying-tao Meng, W. Fan, 2013, Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics.

Clinical diagnosis and mutation analysis of four Chinese families with succinic semialdehyde dehydrogenase deficiency

Ping Wang, Chun-quan Cai, Jianbo Shu, 2019, BMC Medical Genetics.