Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

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Characterization of two ETFDH mutations in a novel case of riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency

Published:2018-11-13 Issue:1 Volume:17 Page:
ISSN:1476-511X
Container-title:Lipids in Health and Disease
language:en
Short-container-title:Lipids Health Dis

Author:

Missaglia Sara,Tavian Daniela,Moro Laura,Angelini Corrado

Funder

Telethon grant

Publisher

Springer Science and Business Media LLC

Subject

Biochemistry (medical),Clinical Biochemistry,Endocrinology,Endocrinology, Diabetes and Metabolism

Link

http://link.springer.com/content/pdf/10.1186/s12944-018-0903-5.pdf

Reference25 articles.

1. Zhang J, Frerman FE, Kim JJ. Structure of electron transfer flavoprotein-ubiquinone oxidoreductase and electron transfer to the mitochondrial ubiquinone pool. Proc Natl Acad Sci U S A. 2006;103:16212–7.

2. Watmough NJ, Frerman FE. The electron transfer flavoprotein:ubiquinone oxidoreductases. Biochim Biophys Acta. 1797;2010:1910–6.

3. Olsen RK, Andresen BS, Christensen E, Bross P, Skovby F, Gregersen N. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency. Hum Mutat. 2003;22:12–23.

4. Angle B, Burton BK. Risk of sudden death and acute life-threatening events in patients with glutaric acidemia type II. Mol Genet Metab. 2008;93:36–9.

5. Pollard LM, Williams NR, Espinoza L, Wood TC, Spector EB, Schroer RJ, Holden KR. Diagnosis, treatment, and long-term outcomes of late-onset (type III) multiple acyl-CoA dehydrogenase deficiency. J Child Neurol. 2010;25:954–60.

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2. Riboflavin-responsive lipid-storage myopathy in elderly patients;Journal of the Neurological Sciences;2024-01

3. New perspectives in late-onset multiple acyl-CoA dehydrogenase deficiency: Clinical and genetic findings;Journal of the Neurological Sciences;2023-12

4. New insights into the nutritional genomics of adult-onset riboflavin-responsive diseases;Nutrition & Metabolism;2023-10-16

5. Multiple Acyl-CoA Dehydrogenase Deficiency: A Rare Cause of Hepatomegaly;ACG Case Reports Journal;2023-05

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