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Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment.

JIMD reports

Karall D, Mair G, Albrecht U, Niedermayr K, Karall T, Schobersberger W, Scholl-Bürgi S.
PMID: 24997711
JIMD Rep. 2014;17:7-12. doi: 10.1007/8904_2014_313. Epub 2014 Jul 06.

Exercise and subsequent catabolism is a potential trigger for creatine kinase (CK) concentration increase (rhabdomyolysis) in patients with LCHADD, therefore we evaluated the clinical and biochemical stability under physical exertion conditions at the age of 13 years in a...

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Karall D, Mair G, Albrecht U, et al. Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment. JIMD Rep. 2014;17:7-12doi: 10.1007/8904_2014_313.
Karall, D., Mair, G., Albrecht, U., Niedermayr, K., Karall, T., Schobersberger, W., & Scholl-Bürgi, S. (2014). Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment. JIMD reports, 177-12. https://doi.org/10.1007/8904_2014_313
Karall, D, et al. "Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment." JIMD reports vol. 17 (2014): 7-12. doi: https://doi.org/10.1007/8904_2014_313
Karall D, Mair G, Albrecht U, Niedermayr K, Karall T, Schobersberger W, Scholl-Bürgi S. Sports in LCHAD Deficiency: Maximal Incremental and Endurance Exercise Tests in a 13-Year-Old Patient with Long-Chain 3-Hydroxy Acyl-CoA Dehydrogenase Deficiency (LCHADD) and Heptanoate Treatment. JIMD Rep. 2014;17:7-12. doi: 10.1007/8904_2014_313. Epub 2014 Jul 06. PMID: 24997711; PMCID: PMC4241206.
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A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report.

Frontiers in pediatrics

Hu G, Zeng J, Wang C, Zhou W, Jia Z, Yang J, Zheng B.
PMID: 32292771
Front Pediatr. 2020 Mar 27;8:118. doi: 10.3389/fped.2020.00118. eCollection 2020.

No abstract available.

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Hu G, Zeng J, Wang C, et al. A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report. Front Pediatr. 2020;8:118doi: 10.3389/fped.2020.00118.
Hu, G., Zeng, J., Wang, C., Zhou, W., Jia, Z., Yang, J., & Zheng, B. (2020). A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report. Frontiers in pediatrics, 8118. https://doi.org/10.3389/fped.2020.00118
Hu, Guorui, et al. "A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report." Frontiers in pediatrics vol. 8 (2020): 118. doi: https://doi.org/10.3389/fped.2020.00118
Hu G, Zeng J, Wang C, Zhou W, Jia Z, Yang J, Zheng B. A Synonymous Variant c.579A>G in the ETFDH Gene Caused Exon Skipping in a Patient With Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency: A Case Report. Front Pediatr. 2020 Mar 27;8:118. doi: 10.3389/fped.2020.00118. eCollection 2020. PMID: 32292771; PMCID: PMC7119189.
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REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population.

Molecular genetics and metabolism

Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N.
PMID: 17234443
Mol Genet Metab. 2007 Jan 17; doi: 10.1016/j.ymgme.2006.11.011. Epub 2007 Jan 17.

This article has been removed, consistent with Elsevier Policy on Article Withdrawal (http://www.elsevier.com/locate/withdrawalpolicy). The Publisher apologizes for any inconvenience this may cause.

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Tein I, Elpeleg O, Ben-Zeev B, et al. REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. Mol Genet Metab. 2007;doi: 10.1016/j.ymgme.2006.11.011.
Tein, I., Elpeleg, O., Ben-Zeev, B., Korman, S. H., Lossos, A., Lev, D., Lerman-Sagie, T., Vockley, G., Berry, G. T., Lamhownah, A. M., Matern, D., Roe, C. R., & Gregersen, N. (2007). REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. Molecular genetics and metabolism, . https://doi.org/10.1016/j.ymgme.2006.11.011
Tein, Ingrid, et al. "REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population." Molecular genetics and metabolism vol. (2007). doi: https://doi.org/10.1016/j.ymgme.2006.11.011
Tein I, Elpeleg O, Ben-Zeev B, Korman SH, Lossos A, Lev D, Lerman-Sagie T, Vockley G, Berry GT, Lamhownah AM, Matern D, Roe CR, Gregersen N. REMOVED: Short-chain acyl-CoA dehydrogenase gene mutation (319 C>T) presents with clinical heterogeneity and is candidate founder mutation in Ashkenazi Jewish population. Mol Genet Metab. 2007 Jan 17; doi: 10.1016/j.ymgme.2006.11.011. Epub 2007 Jan 17. PMID: 17234443.
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Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency.

Journal of pediatric neurosciences

Chandra SR, Christopher R, Narayanappa G, Ramanujam NC, Katragadda P, Huddar A, Jha S.
PMID: 30271477
J Pediatr Neurosci. 2018 Jul-Sep;13(3):362-365. doi: 10.4103/JPN.JPN_21_18.

Encephalopathy and Myopathy in children of varying ages can be due to variety of causes including Mitochondrial diseases, metabolic diseases like renal tubular acidosis, storage diseases as well as fatty acid oxidation (FAO) disorders. FAO related disorders have variable...

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Chandra SR, Christopher R, Narayanappa G, et al. Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. J Pediatr Neurosci. 2018;13(3):362-365doi: 10.4103/JPN.JPN_21_18.
Chandra, S. R., Christopher, R., Narayanappa, G., Ramanujam, N. C., Katragadda, P., Huddar, A., & Jha, S. (2018). Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. Journal of pediatric neurosciences, 13(3), 362-365. https://doi.org/10.4103/JPN.JPN_21_18
Chandra, Sadanandavalli R, et al. "Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency." Journal of pediatric neurosciences vol. 13,3 (2018): 362-365. doi: https://doi.org/10.4103/JPN.JPN_21_18
Chandra SR, Christopher R, Narayanappa G, Ramanujam NC, Katragadda P, Huddar A, Jha S. Lipid Storage Myopathy with Ketonuria: A Case of Fatty Acid Oxidation-Related Myopathy and Encephalopathy due to Multiple Acyl-CoA Dehydrogenase Deficiency. J Pediatr Neurosci. 2018 Jul-Sep;13(3):362-365. doi: 10.4103/JPN.JPN_21_18. PMID: 30271477; PMCID: PMC6144612.
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The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency.

Molecular genetics and metabolism reports

Bo R, Awano H, Yamada K, Ooi M, Okata Y, Bitoh Y, Mizobuchi S, Iijima K.
PMID: 33996489
Mol Genet Metab Rep. 2021 Apr 19;27:100760. doi: 10.1016/j.ymgmr.2021.100760. eCollection 2021 Jun.

Very long-chain acyl-coenzyme A dehydrogenase deficiency (VLCADD, OMIM 201475) is a congenital fatty acid oxidation disorder. Individuals with VLCADD should avoid catabolic states, including strenuous exercise and long-term fasting; however, such conditions are required when undergoing surgery. The perioperative...

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Bo R, Awano H, Yamada K, et al. The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2021;27:100760doi: 10.1016/j.ymgmr.2021.100760.
Bo, R., Awano, H., Yamada, K., Ooi, M., Okata, Y., Bitoh, Y., Mizobuchi, S., & Iijima, K. (2021). The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency. Molecular genetics and metabolism reports, 27100760. https://doi.org/10.1016/j.ymgmr.2021.100760
Bo, Ryosuke, et al. "The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency." Molecular genetics and metabolism reports vol. 27 (2021): 100760. doi: https://doi.org/10.1016/j.ymgmr.2021.100760
Bo R, Awano H, Yamada K, Ooi M, Okata Y, Bitoh Y, Mizobuchi S, Iijima K. The perioperative transition of serum biomarkers of a 1.5-year-old boy with very-long-chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab Rep. 2021 Apr 19;27:100760. doi: 10.1016/j.ymgmr.2021.100760. eCollection 2021 Jun. PMID: 33996489; PMCID: PMC8086129.
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Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation.

European journal of neurology

Vattemi G, Gellera C, Tomelleri G.
PMID: 28643959
Eur J Neurol. 2017 Jul;24(7):e41-e42. doi: 10.1111/ene.13319.

No abstract available.

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Vattemi G, Gellera C, Tomelleri G. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation. Eur J Neurol. 2017;24(7):e41-e42doi: 10.1111/ene.13319.
Vattemi, G., Gellera, C., & Tomelleri, G. (2017). Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation. European journal of neurology, 24(7), e41-e42. https://doi.org/10.1111/ene.13319
Vattemi, G, et al. "Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation." European journal of neurology vol. 24,7 (2017): e41-e42. doi: https://doi.org/10.1111/ene.13319
Vattemi G, Gellera C, Tomelleri G. Riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency: delayed hypersensitivity reaction and efficacy of low-dose intermittent supplementation. Eur J Neurol. 2017 Jul;24(7):e41-e42. doi: 10.1111/ene.13319. PMID: 28643959.
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Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy.

Molecular therapy : the journal of the American Society of Gene Therapy

[No authors listed]
PMID: 28178534
Mol Ther. 2012 Jun;20(6):1287. doi: 10.1038/mt.2012.106. Epub 2016 Dec 06.

No abstract available.

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Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy. Mol Ther. 2016;20(6):1287doi: 10.1038/mt.2012.106.
(2012). Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy. Molecular therapy : the journal of the American Society of Gene Therapy, 20(6), 1287. https://doi.org/10.1038/mt.2012.106
"Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy." Molecular therapy : the journal of the American Society of Gene Therapy vol. 20,6 (2012): 1287. doi: https://doi.org/10.1038/mt.2012.106
Long-term Correction of Very Long-chain Acyl-CoA Dehydrogenase Deficiency in Mice Using AAV9 Gene Therapy. Mol Ther. 2012 Jun;20(6):1287. doi: 10.1038/mt.2012.106. Epub 2016 Dec 06. PMID: 28178534; PMCID: PMC3369286.
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Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.

International journal of medical sciences

Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y.
PMID: 34790035
Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021.

No abstract available.

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Wu Q, Yan T, Chen Y, et al. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021;18(16):3631-3643doi: 10.7150/ijms.63953.
Wu, Q., Yan, T., Chen, Y., Chang, J., Jiang, Y., Zhu, D., & Wei, Y. (2021). Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. International journal of medical sciences, 18(16), 3631-3643. https://doi.org/10.7150/ijms.63953
Wu, Qi, et al. "Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer." International journal of medical sciences vol. 18,16 (2021): 3631-3643. doi: https://doi.org/10.7150/ijms.63953
Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021. PMID: 34790035; PMCID: PMC8579304.
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Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.

International journal of medical sciences

Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y.
PMID: 34790035
Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021.

No abstract available.

Cite
Wu Q, Yan T, Chen Y, et al. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021;18(16):3631-3643doi: 10.7150/ijms.63953.
Wu, Q., Yan, T., Chen, Y., Chang, J., Jiang, Y., Zhu, D., & Wei, Y. (2021). Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. International journal of medical sciences, 18(16), 3631-3643. https://doi.org/10.7150/ijms.63953
Wu, Qi, et al. "Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer." International journal of medical sciences vol. 18,16 (2021): 3631-3643. doi: https://doi.org/10.7150/ijms.63953
Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021. PMID: 34790035; PMCID: PMC8579304.
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Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer.

International journal of medical sciences

Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y.
PMID: 34790035
Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021.

No abstract available.

Cite
Wu Q, Yan T, Chen Y, et al. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021;18(16):3631-3643doi: 10.7150/ijms.63953.
Wu, Q., Yan, T., Chen, Y., Chang, J., Jiang, Y., Zhu, D., & Wei, Y. (2021). Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. International journal of medical sciences, 18(16), 3631-3643. https://doi.org/10.7150/ijms.63953
Wu, Qi, et al. "Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer." International journal of medical sciences vol. 18,16 (2021): 3631-3643. doi: https://doi.org/10.7150/ijms.63953
Wu Q, Yan T, Chen Y, Chang J, Jiang Y, Zhu D, Wei Y. Integrated Analysis of Expression and Prognostic Values of Acyl-CoA Dehydrogenase short-chain in Colorectal Cancer. Int J Med Sci. 2021 Sep 07;18(16):3631-3643. doi: 10.7150/ijms.63953. eCollection 2021. PMID: 34790035; PMCID: PMC8579304.
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Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency.

Case reports in pediatrics

Stanescu S, Belanger-Quintana A, Alcalde Martin C, Pérez-Cerdá Silvestre C, Merinero Cortés B, Gonzalez Pérez B, Fernández García-Abril C, Arrieta Blanco F, Palacios Valverde E, Martínez-Pardo Casanova M.
PMID: 32733732
Case Rep Pediatr. 2020 Jul 14;2020:1370293. doi: 10.1155/2020/1370293. eCollection 2020.

No abstract available.

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Stanescu S, Belanger-Quintana A, Alcalde Martin C, et al. Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case Rep Pediatr. 2020;2020:1370293doi: 10.1155/2020/1370293.
Stanescu, S., Belanger-Quintana, A., Alcalde Martin, C., Pérez-Cerdá Silvestre, C., Merinero Cortés, B., Gonzalez Pérez, B., Fernández García-Abril, C., Arrieta Blanco, F., Palacios Valverde, E., & Martínez-Pardo Casanova, M. (2020). Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case reports in pediatrics, 20201370293. https://doi.org/10.1155/2020/1370293
Stanescu, Sinziana, et al. "Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency." Case reports in pediatrics vol. 2020 (2020): 1370293. doi: https://doi.org/10.1155/2020/1370293
Stanescu S, Belanger-Quintana A, Alcalde Martin C, Pérez-Cerdá Silvestre C, Merinero Cortés B, Gonzalez Pérez B, Fernández García-Abril C, Arrieta Blanco F, Palacios Valverde E, Martínez-Pardo Casanova M. Beneficial Effect of N-Carbamylglutamate in a Neonatal Form of Multiple Acyl-CoA Dehydrogenase Deficiency. Case Rep Pediatr. 2020 Jul 14;2020:1370293. doi: 10.1155/2020/1370293. eCollection 2020. PMID: 32733732; PMCID: PMC7378605.
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Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency.

Pediatrics international : official journal of the Japan Pediatric Society

Nakanishi K, Okutani T, Bou R, Awano H, Yamane M.
PMID: 34254712
Pediatr Int. 2021 Oct;63(10):1253-1254. doi: 10.1111/ped.14588. Epub 2021 Jul 13.

No abstract available.

Cite
Nakanishi K, Okutani T, Bou R, et al. Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Int. 2021;63(10):1253-1254doi: 10.1111/ped.14588.
Nakanishi, K., Okutani, T., Bou, R., Awano, H., & Yamane, M. (2021). Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatrics international : official journal of the Japan Pediatric Society, 63(10), 1253-1254. https://doi.org/10.1111/ped.14588
Nakanishi, Keita, et al. "Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency." Pediatrics international : official journal of the Japan Pediatric Society vol. 63,10 (2021): 1253-1254. doi: https://doi.org/10.1111/ped.14588
Nakanishi K, Okutani T, Bou R, Awano H, Yamane M. Subacute hypoglycemia during gastroenteritis in a child with medium-chain acyl-CoA dehydrogenase deficiency. Pediatr Int. 2021 Oct;63(10):1253-1254. doi: 10.1111/ped.14588. Epub 2021 Jul 13. PMID: 34254712.
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Showing 1 to 12 of 234 entries