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
Spectrum analysis of inborn errors of metabolism for expanded newborn screening in a northwestern Chinese population.
Zhang R et al.
Scientific Reports, 2021
One potential hotspot ACADVL mutation in Chinese patients with very-long-chain acyl-coenzyme A dehydrogenase deficiency.
Li X et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2020
Serum C14:1/C12:1 ratio is a useful marker for differentiating affected patients with very long-chain acyl-CoA dehydrogenase deficiency from heterozygous carriers.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2019
[Clinical features and ACADVL gene mutation spectrum analysis of 11 Chinese patients with very long chain acyl-CoA dehydrogenase deficiency].
Jinjun C et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Zhang RN et al.
World Journal of Pediatrics : Wjp, 2014
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