Korean J Neuromuscul Disord.
2022 Dec;14(2):42-44. 10.46518/kjnmd.2022.14.2.42.
Late-Onset Myopathic form of Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency Linked to Compound Heterozygous Variants in ACADVL
- Affiliations
-
- 1Department of Neurology, College of Medicine, Hanyang University, Seoul, Korea
- 2Department of Laboratory Medicine, College of Medicine, Hanyang University, Seoul, Korea
- KMID: 2539421
- DOI: http://doi.org/10.46518/kjnmd.2022.14.2.42
Keyword
- Full Text Links
-
- Actions
-
Cited
- CITED
-
- Close
- Share
-
- Similar articles
-
- Compound heterozygous mutations of ACADS gene in newborn with short chain acyl-CoA dehydrogenase deficiency: case report and literatures review
- A Suspect Case of Medium Chanin Acyl-Coenzyme A Dehydrogenase Deficiency with Iron Deficiency Anemia
- Identification of Novel Compound Heterozygous Mutations in the ACADS Gene of an Asymptomatic Korean Newborn with Short Chain Acyl-CoA Dehydrogenase Deficiency by Tandem Mass Spectrometry
- Clinical, Biochemical and Genetic Analyses in Two Korean Patients with Medium-chain Acyl-CoA Dehydrogenase Deficiency
- Clinical Features of Multiple Acyl-CoA Dehydrogenase Deficiency With ETFDH Variants in the First Korean Cases
