Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
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
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X et al.
Metabolic Brain Disease, 2018
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Yang N et al.
Zhonghua Yi Xue Za Zhi, 2012
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