Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2020 18
2021 15
2022 16
2023 17
2024 4

Text availability

Article attribute

Article type

Publication date

Search Results

61 results

Results by year

Filters applied: . Clear all
Page 1
Synthetic mRNA rescues very long-chain acyl-CoA dehydrogenase deficiency in patient fibroblasts and a murine model.
Zhao XJ, Mohsen AW, Mihalik S, Solo K, Aliu E, Shi H, Basu S, Kochersperger C, Van't Land C, Karunanidhi A, Coughlan KA, Siddiqui S, Rice LM, Hillier S, Guadagnin E, Giangrande PH, Martini PGV, Vockley J. Zhao XJ, et al. Mol Genet Metab. 2023 Jan;138(1):106982. doi: 10.1016/j.ymgme.2022.106982. Epub 2022 Dec 23. Mol Genet Metab. 2023. PMID: 36580829 Free PMC article.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of long chain fatty acid beta-oxidation (FAO) with limited treatment options. ...Results from this study support the potential for hVLCAD mRNA for treatment of VLCAD deficiency …
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is an inborn error of long chain fatty acid beta-oxidation (FAO) wit …
Adult-onset very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD).
Fatehi F, Okhovat AA, Nilipour Y, Mroczek M, Straub V, Töpf A, Palibrk A, Peric S, Rakocevic Stojanovic V, Najmabadi H, Nafissi S. Fatehi F, et al. Eur J Neurol. 2020 Nov;27(11):2257-2266. doi: 10.1111/ene.14402. Epub 2020 Jul 24. Eur J Neurol. 2020. PMID: 32558070 Free PMC article.
Perioperative anesthetic management of very long-chain acyl-coenzyme a dehydrogenase deficiency.
Peixoto C, Dourado C, Santos H, Roberto P. Peixoto C, et al. Rev Esp Anestesiol Reanim (Engl Ed). 2023 Apr;70(4):231-234. doi: 10.1016/j.redare.2021.12.005. Epub 2023 Feb 25. Rev Esp Anestesiol Reanim (Engl Ed). 2023. PMID: 36842679
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a rare disorder of beta-oxidation fatty acid metabolism that results in susceptibility to hypoglycemia, liver failure, cardiomyopathy and rhabdomyolysis during cata …
Very long-chain acyl-coenzyme A dehydrogenase deficiency is a rare disorder of beta- …
Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.
Alhashem A, Mohamed S, Abdelraheem M, AlGufaydi B, Al-Aqeel A. Alhashem A, et al. Saudi Med J. 2020 Jun;41(6):590-596. doi: 10.15537/smj.2020.6.25131. Saudi Med J. 2020. PMID: 32518924 Free PMC article.
To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency. Methods: A retrospective observational cross-sectional analysis was conducted on all patients with VLCAD deficiency at (G …
To describe the clinical and molecular characteristics of patients with very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency …
Severity estimation of very-long-chain acyl-CoA dehydrogenase deficiency via 13C-fatty acid loading test.
Sugihara K, Yuasa M, Isozaki Y, Hata I, Ohshima Y, Hamazaki T, Kakiuchi T, Arao M, Igarashi N, Kotani Y, Fukuda T, Kagawa R, Tajima G, Shigematsu Y. Sugihara K, et al. Pediatr Res. 2022 Nov;92(5):1391-1399. doi: 10.1038/s41390-022-01979-z. Epub 2022 Feb 8. Pediatr Res. 2022. PMID: 35136200
BACKGROUND: The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using conventional diagnostic methods. ...CONCLUSIONS: Our data indicated that this method could be used to predict the clinical severity of VLC …
BACKGROUND: The clinical severity of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is difficult to predict using c …
Pearson syndrome.
Tedjaseputra A, Radhakrishnan K, Martin M, Downie P, Stergiotis M, Bain BJ. Tedjaseputra A, et al. Am J Hematol. 2023 Mar;98(3):527-528. doi: 10.1002/ajh.26794. Epub 2022 Dec 5. Am J Hematol. 2023. PMID: 36436195 Free article. No abstract available.
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, Division of Genetics and Metabolism, Child Diseases and Health Care Branch, Chinese Association for Maternal and Child Health. Division of Biochemistry and Metabolism, Medical Genetics Branch, Chinese Medical Association, et al. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022 Feb 25;51(1):122-128. doi: 10.3724/zdxbyxb-2022-0107. Zhejiang Da Xue Xue Bao Yi Xue Ban. 2022. PMID: 36161784 Free PMC article. English.
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation. ...Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation. ...
Very long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is a metabolic disease of long chain fatty acid oxidation. ...Very l …
Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.
Ambrose A, Sheehan M, Bahl S, Athey T, Ghai-Jain S, Chan A, Mercimek-Andrews S. Ambrose A, et al. Orphanet J Rare Dis. 2022 Sep 15;17(1):360. doi: 10.1186/s13023-022-02512-5. Orphanet J Rare Dis. 2022. PMID: 36109795 Free PMC article. Review.
All patients with LCHAD deficiency had the common variant (p.Glu474Gln) in HADHA and their phenotype was similar to the patients reported in the literature for this genotype. Only one patient with VLCAD deficiency had the common p.Val283Ala in ACADVL. The different …
All patients with LCHAD deficiency had the common variant (p.Glu474Gln) in HADHA and their phenotype was similar to the patients reported in …
61 results