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Very long-chain acyl-CoA dehydrogenase (VLCAD-) deficiency-studies on treatment effects and long-term outcomes in mouse models.
Tucci S. Tucci S. J Inherit Metab Dis. 2017 May;40(3):317-323. doi: 10.1007/s10545-017-0016-8. Epub 2017 Feb 28. J Inherit Metab Dis. 2017. PMID: 28247148 Review.
The application of a single MCT bolus in a mouse model of VLCAD-deficiency (VLCAD(-/-) mice) immediately prior to exercise protected the muscles from the accumulation of acylcarnitines providing the required energy and it did not affect hepatic lipid metabolism. However, when MCT …
The application of a single MCT bolus in a mouse model of VLCAD-deficiency (VLCAD(-/-) mice) immediately prior to exercise protected the mus …
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.
Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and treatment. ...Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diag …
Most patients can be identified through neonatal screening, and the prognosis is usually good in patients with early diagnosis and tr …
Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.
Yamada K, Taketani T. Yamada K, et al. J Hum Genet. 2019 Feb;64(2):73-85. doi: 10.1038/s10038-018-0527-7. Epub 2018 Nov 6. J Hum Genet. 2019. PMID: 30401918 Review.
VLCAD deficiency is generally classified into three phenotypes based on onset time, but the classification should be comprehensively determined based on genotype, residual enzyme activity, and clinical course, due to a lack of apparent genotype-phenotype correlation. With …
VLCAD deficiency is generally classified into three phenotypes based on onset time, but the classification should be comprehensively determi …
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
CONCLUSIONS: Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify patients at a risk of severe disease. IMPACT: We established a novel method to predict the severity of VLCAD deficiency by performing a …
CONCLUSIONS: Our data indicated that this method could be used to predict the clinical severity of VLCAD deficiency, and identify pat …
Clinical features and mutations in seven Chinese patients with very long chain acyl-CoA dehydrogenase deficiency.
Zhang RN, Li YF, Qiu WJ, Ye J, Han LS, Zhang HW, Lin N, Gu XF. Zhang RN, et al. World J Pediatr. 2014 May;10(2):119-25. doi: 10.1007/s12519-014-0480-2. Epub 2014 May 7. World J Pediatr. 2014. PMID: 24801231
Although many ACADVL mutations have been described, no prevalent mutations in the ACADVL gene have been associated with VLCADD. Herein, we report the clinical course of the disease and explore the genetic mutation spectrum in seven Chinese patients with VLCADD. ...All exon …
Although many ACADVL mutations have been described, no prevalent mutations in the ACADVL gene have been associated with VLCADD. Herein, we r …
Infants suspected to have very-long chain acyl-CoA dehydrogenase deficiency from newborn screening.
Merritt JL 2nd, Vedal S, Abdenur JE, Au SM, Barshop BA, Feuchtbaum L, Harding CO, Hermerath C, Lorey F, Sesser DE, Thompson JD, Yu A. Merritt JL 2nd, et al. Mol Genet Metab. 2014 Apr;111(4):484-92. doi: 10.1016/j.ymgme.2014.01.009. Epub 2014 Jan 23. Mol Genet Metab. 2014. PMID: 24503138
Comparison of analytes and analyte ratios from the NBS demonstrated statistically significant differences between true positive and false positive groups for C14:1, C14, C14:1/C2, and C14:1/C16. The positive predictive value for all true positive cases was 94%, 54%, and 23 …
Comparison of analytes and analyte ratios from the NBS demonstrated statistically significant differences between true positive and false po …
Tracer-based lipidomics enables the discovery of disease-specific candidate biomarkers in mitochondrial β-oxidation disorders.
Schwantje M, Mosegaard S, Knottnerus SJG, van Klinken JB, Wanders RJ, van Lenthe H, Hermans J, IJlst L, Denis SW, Jaspers YRJ, Fuchs SA, Houtkooper RH, Ferdinandusse S, Vaz FM. Schwantje M, et al. FASEB J. 2024 Feb 29;38(4):e23478. doi: 10.1096/fj.202302163R. FASEB J. 2024. PMID: 38372965
In addition, we present two disease-specific candidate biomarkers for VLCADD and LCHADD, that may have significant relevance for disease diagnosis, prognosis, and monitoring....
In addition, we present two disease-specific candidate biomarkers for VLCADD and LCHADD, that may have significant relevance for disease dia …
Proposal for an individualized dietary strategy in patients with very long-chain acyl-CoA dehydrogenase deficiency.
Bleeker JC, Kok IL, Ferdinandusse S, de Vries M, Derks TGJ, Mulder MF, Williams M, Gozalbo ER, Bosch AM, van den Hurk DT, de Sain-van der Velden MGM, Waterham HR, Wijburg FA, Visser G. Bleeker JC, et al. J Inherit Metab Dis. 2019 Jan;42(1):159-168. doi: 10.1002/jimd.12037. J Inherit Metab Dis. 2019. PMID: 30740737
OBJECTIVE: To define dietary strategies for individuals with VLCADD based on the predicted phenotype. METHOD: We evaluated long-term dietary histories of a cohort of individuals diagnosed with VLCADD identified before the introduction of VLCADD in NBS and their beta-oxidat …
OBJECTIVE: To define dietary strategies for individuals with VLCADD based on the predicted phenotype. METHOD: We evaluated long-term …
Newborn screening and genetic characteristics of patients with short- and very long-chain acyl-CoA dehydrogenase deficiencies.
Lin Y, Zhang W, Chen D, Lin C, Zheng Z, Fu Q, Li M, Peng W. Lin Y, et al. Clin Chim Acta. 2020 Nov;510:285-290. doi: 10.1016/j.cca.2020.07.038. Epub 2020 Jul 22. Clin Chim Acta. 2020. PMID: 32710939
MATERIALS AND METHODS: We investigated the effects of genetic variations on protein function using in silico prediction and structural modelling. RESULTS: Of 364,545 screened newborns, four were diagnosed with SCADD and four with VLCADD. ...CONCLUSIONS: Our findings expand …
MATERIALS AND METHODS: We investigated the effects of genetic variations on protein function using in silico prediction and structura …
41 results