Associated Papers
Improving newborn screening accuracy through genome sequencing, targeted metabolomics, and machine learning.
Xie Y et al.
Bmc Medical Genomics, 2025
41257776 (PubMed )
Supplement: 12920_2025_2261_MOESM2_ESM.xlsx › Table_S1__NBS_119set
Mechanistic insights into impaired β-oxidation and its role in mitochondrial dysfunction: A comprehensive review.
Aqeel A et al.
Diabetes Research and Clinical Practice, 2025
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
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
Outcomes and genotype-phenotype correlations in 52 individuals with VLCAD deficiency diagnosed by NBS and enrolled in the IBEM-IS database.
Pena LD et al.
Molecular Genetics and Metabolism, 2016
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ et al.
Molecular Genetics and Metabolism, 2015
Fatty Acid oxidation disorders in a chinese population in taiwan.
Chien YH et al.
Jimd Reports, 2013
High-resolution melting analysis, a simple and effective method for reliable mutation scanning and frequency studies in the ACADVL gene.
Olsen RK et al.
Journal of Inherited Metabolic Disease, 2010
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