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Results for
""Acyl-CoA Dehydrogenase, Long-Chain""[mesh_terms]

19 Results

Searching titles within these results

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.

Deborah Marsden, Camille L Bedrosian, Jerry Vockley

Genetics in medicine : official journal of the American College of Medical Genetics 2021;23(5):816-829

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Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.

J H Walter

Journal of inherited metabolic disease 2009;32(2):214-7

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A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Georgianne L Arnold, Johan Van Hove, Debra Freedenberg, Arnold Strauss, Nicola Longo, Barbara Burton, Cheryl Garganta, Can Ficicioglu, Stephen Cederbaum, Cary Harding, Richard G Boles, Dietrich Matern, Pranesh Chakraborty, Annette Feigenbaum

Molecular genetics and metabolism 2009;96(3):85-90

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Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Özlem Ünal Uzun, Müge Çınar, Meral Bahar İster, Merve Eşgi, Bülent Kara, Özge Serçe Pehlevan

Neuropediatrics 2025;56(3):208-212

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Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

Anastasia Ambrose, Melissa Sheehan, Shalini Bahl, Taryn Athey, Shailly Ghai-Jain, Alicia Chan, Saadet Mercimek-Andrews

Orphanet journal of rare diseases 2022;17(1):360

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A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature.

Visvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, Eresha Jasinge, Kumudu Weerasekara, Lia Abbasi Moheb

Journal of medical case reports 2021;15(1):441

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Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Kenji Yamada, Takeshi Taketani

Journal of human genetics 2019;64(2):73-85

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Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.

Sathish Kumar Natarajan, Jamal A Ibdah

International journal of molecular sciences 2018;19(1):322

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Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

A Stembridge, P Splett, R H Singh, S C Van Calcar, M Sowa, F Rohr, J Beazer, T Setlock, T U Weihe, S Pendyal, L S Wallace, J G Hansen

Molecular genetics and metabolism 2021;131(1-2):23-37

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The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.

Anita MacDonald, Rachel Webster, Matthew Whitlock, Adam Gerrard, Anne Daly, Mary Anne Preece, Sharon Evans, Catherine Ashmore, Anupam Chakrapani, Suresh Vijay, Saikat Santra

Journal of pediatric endocrinology & metabolism : JPEM 2018;31(3):297-304

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Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

Autumn L Fletcher, Mark E Pennesi, Cary O Harding, Richard G Weleber, Melanie B Gillingham

Molecular genetics and metabolism 2012;106(1):18-24

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No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.

Jesper H Storgaard, Nicoline Løkken, Karen L Madsen, Nicol C Voermans, Pascal Laforêt, Aleksandra Nadaj-Pakleza, Céline Tard, Gerrit van Hall, John Vissing, Mette C Ørngreen

Journal of inherited metabolic disease 2022;45(3):517-528

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Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

Ting Chen, Fan Tong, Xiao-Yu Wu, Ling Zhu, Qiu-Zi Yi, Jing Zheng, Ru-Lai Yang, Zheng-Yan Zhao, Xiao-Hui Cang, Qiang Shu, Ping-Ping Jiang

Journal of Zhejiang University. Science. B 2021;21(11):885-896

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Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Amal Alhashem, Sarar Mohamed, Manal Abdelraheem, Bushra AlGufaydi, Aida Al-Aqeel

Saudi medical journal 2020;41(6):590-596

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Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.

Suzan J G Knottnerus, Isabella Mengarelli, Rob C I Wüst, Antonius Baartscheer, Jeannette C Bleeker, Ruben Coronel, Sacha Ferdinandusse, Kaomei Guan, Lodewijk IJlst, Wener Li, Xiaojing Luo, Vincent M Portero, Ying Ulbricht, Gepke Visser, Ronald J A Wanders, Frits A Wijburg, Arie O Verkerk, Riekelt H Houtkooper, Connie R Bezzina

International journal of molecular sciences 2020;21(7):2589

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Results: 1 – 15 / 19

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Results for ""Acyl-CoA Dehydrogenase, Long-Chain""[mesh_terms]

Impact of newborn screening on the reported incidence and clinical outcomes associated with medium- and long-chain fatty acid oxidation disorders.

Tolerance to fast: rational and practical evaluation in children with hypoketonaemia.

A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency.

Neonatal Rhabdomyolysis: A Case Report and Review of the Literature.

Outcomes of mitochondrial long chain fatty acid oxidation and carnitine defects from a single center metabolic genetics clinic.

A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literature.

Management and diagnosis of mitochondrial fatty acid oxidation disorders: focus on very-long-chain acyl-CoA dehydrogenase deficiency.

Role of 3-Hydroxy Fatty Acid-Induced Hepatic Lipotoxicity in Acute Fatty Liver of Pregnancy.

Nutrition management guideline for very-long chain acyl-CoA dehydrogenase deficiency (VLCAD): An evidence- and consensus-based approach.

The safety of Lipistart, a medium-chain triglyceride based formula, in the dietary treatment of long-chain fatty acid disorders: a phase I study.

Observations regarding retinopathy in mitochondrial trifunctional protein deficiencies.

No effect of resveratrol on fatty acid oxidation or exercise capacity in patients with fatty acid oxidation disorders: A randomized clinical cross-over trial.

Novel ACADVL variants resulting in mitochondrial defects in long-chain acyl-CoA dehydrogenase deficiency.

Molecular and clinical characteristics of very-long-chain acyl-CoA dehydrogenase deficiency: A single-center experience in Saudi Arabia.

Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.

Results for
""Acyl-CoA Dehydrogenase, Long-Chain""[mesh_terms]