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1993 4
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419 results

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Page 1
Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.
Van Calcar SC, Sowa M, Rohr F, Beazer J, Setlock T, Weihe TU, Pendyal S, Wallace LS, Hansen JG, Stembridge A, Splett P, Singh RH. Van Calcar SC, et al. Mol Genet Metab. 2020 Sep-Oct;131(1-2):23-37. doi: 10.1016/j.ymgme.2020.10.001. Epub 2020 Oct 6. Mol Genet Metab. 2020. PMID: 33093005 Free article. Review.
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD) is the fourth in a series of web-based guidelines focusing on the diet treatment for inherited metabolic disorders and follows previou …
The nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (V …
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency: Family Impact and Perspectives.
Crawford S, Sablon E, Ali N, Rosen AR, Hall PL, Neira Fresneda J. Crawford S, et al. Int J Neonatal Screen. 2023 Oct 6;9(4):53. doi: 10.3390/ijns9040053. Int J Neonatal Screen. 2023. PMID: 37873844 Free PMC article.
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disorder characterized by the decreased ability of the enzyme very-long-chain acyl-CoA dehydrogenase to break down fatty acids with 14 to 20-long …
Very-Long-Chain Acyl-CoA Dehydrogenase Deficiency (VLCADD) is a fatty acid oxidation disord …
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.
BACKGROUND AND PURPOSE: Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a hereditary disorder of mitochondrial long-chain fatty acid oxidation that has variable presentations, including exercise intolerance, cardiomyo …
BACKGROUND AND PURPOSE: Very-long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a her …
Recurrent ACADVL molecular findings in individuals with a positive newborn screen for very long chain acyl-coA dehydrogenase (VLCAD) deficiency in the United States.
Miller MJ, Burrage LC, Gibson JB, Strenk ME, Lose EJ, Bick DP, Elsea SH, Sutton VR, Sun Q, Graham BH, Craigen WJ, Zhang VW, Wong LJ. Miller MJ, et al. Mol Genet Metab. 2015 Nov;116(3):139-45. doi: 10.1016/j.ymgme.2015.08.011. Epub 2015 Sep 2. Mol Genet Metab. 2015. PMID: 26385305 Free PMC article.
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn error of fatty acid oxidation detected by newborn screening (NBS). ...
Very long chain acyl-coA dehydrogenase deficiency (VLCADD) is an autosomal recessive inborn …
Very Long-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Leslie ND, Saenz-Ayala S. Leslie ND, et al. 2009 May 28 [updated 2023 Jul 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2009 May 28 [updated 2023 Jul 13]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301763 Free Books & Documents. Review.
Hypoglycemia typically is not present at the time of symptoms. DIAGNOSIS/TESTING: The diagnosis of VLCAD deficiency is established in a proband with a specific pattern of abnormal acylcarnitine levels on biochemical testing and/or by identification of biallelic path …
Hypoglycemia typically is not present at the time of symptoms. DIAGNOSIS/TESTING: The diagnosis of VLCAD deficiency is establi …
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.
Very-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondrial long-chain fatty acid (LCFA) oxidation, with an incidence of 1:50,000-1:100,000 in newborns. ...The aim of this work was to investigate …
Very-long-chain-acyl-CoA-dehydrogenase deficiency is the most common disorder of mitochondr …
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.
This article describes the diagnosis, newborn screening, and treatment of long-chain FAODs with a focus on VLCAD deficiency. VLCAD deficiency is generally classified into three phenotypes based on onset time, but the classification should be comprehens …
This article describes the diagnosis, newborn screening, and treatment of long-chain FAODs with a focus on VLCAD deficiency. …
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency Presenting as Rhabdomyolysis.
Ahmed A, de Buitleir C, Elsheik N, Sweeney M. Ahmed A, et al. Ir Med J. 2022 Mar 16;115(3):565. Ir Med J. 2022. PMID: 35532898
She had not eaten for over 12 hours and had been dancing for approximately 6 hours. The patient was known to have Very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). She had a normal exam, and normal vital signs. ...
She had not eaten for over 12 hours and had been dancing for approximately 6 hours. The patient was known to have Very-long- …
Very long-chain acyl-CoA dehydrogenase deficiency in a Swedish cohort: Clinical symptoms, newborn screening, enzyme activity, and genetics.
Olsson D, Barbaro M, Haglind C, Halldin M, Lajic S, Tucci S, Zetterström RH, Nordenström A. Olsson D, et al. JIMD Rep. 2022 Jan 9;63(2):181-190. doi: 10.1002/jmd2.12268. eCollection 2022 Mar. JIMD Rep. 2022. PMID: 35281659 Free PMC article.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty acid beta-oxidation with variable phenotype. ...
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a recessive disorder of fatty …
Very Long-Chain Acyl-CoA Dehydrogenase Deficiency: High Incidence of Detected Patients With Expanded Newborn Screening Program.
Remec ZI, Groselj U, Drole Torkar A, Zerjav Tansek M, Cuk V, Perko D, Ulaga B, Lipovec N, Debeljak M, Kovac J, Battelino T, Repic Lampret B. Remec ZI, et al. Front Genet. 2021 Apr 27;12:648493. doi: 10.3389/fgene.2021.648493. eCollection 2021. Front Genet. 2021. PMID: 33986768 Free PMC article.
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive disorder of fatty acid metabolism with a variable presentation. ...
Very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) is a rare autosomal recessive di …
419 results