Associated Papers
Direct Prediction of VLCADD Severity Using Newborn Screening Analyte Data.
Schwantje M et al.
Journal of Inherited Metabolic Disease, 2026
Genomic sequencing enhances metabolic newborn screening in Thailand.
Kuptanon C et al.
Clinical Biochemistry, 2026
Identification of four novel ACADVL variants in eight Chinese unrelated patients with very long-chain acyl-CoA dehydrogenase deficiency.
Dong L et al.
Endocrine, 2025
The utility of CNV analysis in identifying the molecular etiology of pediatric epilepsy patients.
Zhang S et al.
Pediatric Research, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
The Pathogenesis of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Sharma S et al.
Biomolecules, 2025
Genetic analyses of very long-chain acyl-coenzyme A dehydrogenase deficiency: A case report with a novel ACADVL variant.
Zhou W et al.
Molecular Genetics and Metabolism Reports, 2025
Management and Outcomes of Very Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCAD Deficiency): A Retrospective Chart Review.
Al Bandari M et al.
International Journal of Neonatal Screening, 2024
Using the C14:1/Medium-Chain Acylcarnitine Ratio Instead of C14:1 to Reduce False-Positive Results for Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency in Newborn Screening in Japan.
Tajima G et al.
International Journal of Neonatal Screening, 2024
Newborn screening for fatty acid oxidation disorders in a southern Chinese population.
Lin Y et al.
Heliyon, 2024
[Very-long chain acyl-coA dehydrogenase deficiency: report of a Chinese pedigree and a literature review].
Cai S et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2024
Four novel variants identified in the ACADVL gene causing very-long-chain acyl-coenzyme A dehydrogenase deficiency in four unrelated Chinese families.
Li L et al.
Frontiers in Genetics, 2024
Specifications of the ACMG/AMP guidelines for ACADVL variant interpretation.
Flowers M et al.
Molecular Genetics and Metabolism, 2023
[A case of very long chain acyl-CoA dehydrogenase deficiency diagnosed due to a trigger of hyperemesis gravidarum during pregnancy].
Shiraishi W et al.
Rinsho Shinkeigaku = Clinical Neurology, 2023
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
A Comprehensive LOVD Database for Fatty Acid Oxidation Disorders in Chinese Populations.
Zhang T et al.
Human Mutation, 2023
Analysis of clinically relevant variants from ancestrally diverse Asian genomes.
Chan SH et al.
Nature Communications, 2022
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Sugihara K et al.
Pediatric Research, 2022
Screening for newborn fatty acid oxidation disorders in Chongqing and the follow-up of confirmed children.
Chen M et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
The frequencies of very long-chain acyl-CoA dehydrogenase deficiency genetic variants in Japan have changed since the implementation of expanded newborn screening.
Osawa Y et al.
Molecular Genetics and Metabolism, 2022
Expert consensus on diagnosis and treatment of very long-chain acyl-CoA dehydrogenase deficiency.
Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association et al.
Zhejiang Da Xue Xue Bao. Yi Xue Ban = Journal of Zhejiang University. Medical Sciences, 2022
Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.
Marsden D et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F et al.
European Journal of Neurology, 2020
Anesthesia management in a patient with very long-chain acyl-Coenzyme A dehydrogenase deficiency.
Yuasa H et al.
Ja Clinical Reports, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
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
Mitochondrial Genetic Disorders: Cell Signaling and Pharmacological Therapies.
Djouadi F et al.
Cells, 2019
Next-generation sequencing identifies a homozygous mutation in ACADVL associated with pediatric familial dilated cardiomyopathy.
Carlus SJ et al.
European Review for Medical and Pharmacological Sciences, 2019
New Ratios for Performance Improvement for Identifying Acyl-CoA Dehydrogenase Deficiencies in Expanded Newborn Screening: A Retrospective Study.
Wang B et al.
Frontiers in Genetics, 2019
Open-label clinical trial of bezafibrate treatment in patients with fatty acid oxidation disorders in Japan.
Yamada K et al.
Molecular Genetics and Metabolism Reports, 2018
Clinical, Biochemical, and Molecular Features in 37 Saudi Patients with Very Long Chain Acyl CoA Dehydrogenase Deficiency.
Obaid A et al.
Jimd Reports, 2018
Sources of discordance among germ-line variant classifications in ClinVar.
Yang S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Applying targeted next generation sequencing to dried blood spot specimens from suspicious cases identified by tandem mass spectrometry-based newborn screening.
Qian J et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2017
VLCAD deficiency: Follow-up and outcome of patients diagnosed through newborn screening in Victoria.
Evans M et al.
Molecular Genetics and Metabolism, 2016
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
[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
Very long-chain acyl-coenzyme A dehydrogenase deficiency in Chinese patients: eight case reports, including one case of prenatal diagnosis.
Li X et al.
European Journal of Medical Genetics, 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
Fatty Acid oxidation disorders in a chinese population in taiwan.
Chien YH et al.
Jimd Reports, 2013
Exposure to resveratrol triggers pharmacological correction of fatty acid utilization in human fatty acid oxidation-deficient fibroblasts.
Bastin J et al.
Human Molecular Genetics, 2011
Compared effects of missense mutations in Very-Long-Chain Acyl-CoA Dehydrogenase deficiency: Combined analysis by structural, functional and pharmacological approaches.
Gobin-Limballe S et al.
Biochimica Et Biophysica Acta, 2010
Development of a new enzymatic diagnosis method for very-long-chain Acyl-CoA dehydrogenase deficiency by detecting 2-hexadecenoyl-CoA production and its application in tandem mass spectrometry-based selective screening and newborn screening in Japan.
Tajima G et al.
Pediatric Research, 2008
VLCAD deficiency: pitfalls in newborn screening and confirmation of diagnosis by mutation analysis.
Boneh A et al.
Molecular Genetics and Metabolism, 2006
A new diagnostic test for VLCAD deficiency using immunohistochemistry.
Ohashi Y et al.
Neurology, 2004
Genetic defects in fatty acid beta-oxidation and acyl-CoA dehydrogenases. Molecular pathogenesis and genotype-phenotype relationships.
Gregersen N et al.
European Journal of Biochemistry, 2004
[A case of very-long-chain acyl-CoA dehydrogenase deficiency with adolescent onset being diagnosed by immunostain of biopsy muscle].
Sakata N et al.
Rinsho Shinkeigaku = Clinical Neurology, 2003
Myopathic form of very-long chain acyl-coa dehydrogenase deficiency: evidence for temperature-sensitive mild mutations in both mutant alleles in a Japanese girl.
Fukao T et al.
Pediatric Research, 2001