L. Shen

A rare mutation c.1663G > A (p.A555T) in the MMUT gene associated with mild clinical and biochemical phenotypes of methylmalonic acidemia in 30 Chinese patients

Xuefan Gu, L. Liang, Shengnan Wu, 2020, Orphanet Journal of Rare Diseases.

Evaluation of the clinical, biochemical, genotype and prognosis of mut-type methylmalonic acidemia in 365 Chinese cases

Xuefan Gu, L. Liang, Shengnan Wu, 2023, Journal of Medical Genetics.

Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients

Shengnan Wu, C. Gong, B. Cao, 2022, Frontiers in Genetics.

Different mutations in the MMUT gene are associated with the effect of vitamin B12 in a cohort of 266 Chinese patients with mut‐type methylmalonic acidemia: A retrospective study

Xuefan Gu, L. Liang, Shengnan Wu, 2021, Molecular genetics & genomic medicine.

A novel stop-loss DAX1 variant affecting its protein-interaction with SF1 precedes the adrenal hypoplasia congenital with rare spontaneous precocious puberty and an elevated hypothalamic-pituitary-gonadal/adrenal axis responses.

S. Kumar, Haiyan Wei, Yongxing Chen, 2021, European journal of medical genetics.