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
Neonatal isovaleric acidemia in China: A case report and review of literature.
Wu F et al.
World Journal of Clinical Cases, 2021
Eight novel mutations detected from eight Chinese patients with isovaleric acidemia.
Li Y et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2019
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