Associated Papers
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2026
41702539 (PubMed )
Supplement: JIMD-49-0-s001.pdf
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
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson D et al.
Jimd Reports, 2022
Altered mitochondrial metabolism in peripheral blood cells from patients with inborn errors of β-oxidation.
Stenlid R et al.
Clinical and Translational Science, 2022
[Analysis of ACADVL gene variations among nine neonates with very long chain acyl-coA dehydrogenase deficiency].
Tong F et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2019
Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.
Chen T et al.
Journal of Zhejiang University. Science. B, 0
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