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| Late-Onset Myopathic form of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Linked to Compound Heterozygous Variants in ACADVL |
| Wonjae Sung, Young-Eun Kim, Seung Hyun Kim |
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Korean J Neuromuscul Disord. 2022;14(2):42-44. Published online December 31, 2022 DOI: https://doi.org/10.46518/kjnmd.2022.14.2.42 |
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Late-Onset Myopathic form of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Linked to Compound Heterozygous Variants in ACADVL Korean Journal of Neuromuscular Disorders. 2022;14(2):42-44  Novel Mutation of Early, Perinatal-Onset, Myopathic-Type Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Pediatric Neurology. 2009;41(2):151-153 A novel mutation of late-onset very-long-chain acyl-CoA dehydrogenase deficiency Pediatric Neurology. 2002;27(2):136-137 Cardiac hypertrophy in mice with long-chain acyl-CoA dehydrogenase or very long-chain acyl-CoA dehydrogenase deficiency Laboratory Investigation. 2009;89(12):1348-1354 Very long-chain acyl-CoA dehydrogenase deficiency nomenclature: compound heterozygosity Journal of Human Genetics. 2020;65(4):435-436 P.77 Clinical presentation of two Korean patients with adolescent-onset very-long-chain acyl-CoA dehydrogenase deficiency Neuromuscular Disorders. 2022;32:S74 Disorder: Very long chain acyl CoA dehydrogenase deficiency A Quick Guide to Metabolic Disease Testing Interpretation. 2020;165-168 Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy Molecular Therapy. 2012;20(6):1287 EP.09Hypersomnia-featured very long-chain acyl-coenzyme a dehydrogenase deficiency caused by a homozygous R428H mutation of ACADVL Neuromuscular Disorders. 2019;29:S72-S73 Perioperative management of a child with short-chain acyl-CoA dehydrogenase deficiency Pediatric Anesthesia. 2005;15(9):771-777 |
