Associated Papers
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X et al.
Scientific Reports, 2021
34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH et al.
World Journal of Pediatrics : Wjp, 2020
[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Sun WH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
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