Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II-Reference-Cited by-同舟云学术

Compound heterozygous mutations in electron transfer flavoprotein dehydrogenase identified in a young Chinese woman with late-onset glutaric aciduria type II

Published:2017-09-26 Issue:1 Volume:16 Page:
ISSN:1476-511X
Container-title:Lipids in Health and Disease
language:en
Short-container-title:Lipids Health Dis

Author:

Xue Ying,Zhou Yun,Zhang Keqin,Li Ling,Kayoumu Abudurexiti,Chen Liye,Wang Yuhui,Lu Zhiqiang

Funder

National Natural Science Foundation of China

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/s12944-017-0576-5.pdf

Reference21 articles.

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2. Yamada K, Kobayashi H, Bo R, Takahashi T, Purevsuren J, Hasegawa Y, Taketani T, Fukuda S, Ohkubo T, Yokota T, et al. Clinical, biochemical and molecular investigation of adult-onset glutaric acidemia type II: Characteristics in comparison with pediatric cases. Brain and Development. 2016;38:293–301.

3. Olsen RK, Olpin SE, Andresen BS, Miedzybrodzka ZH, Pourfarzam M, Merinero B, Frerman FE, Beresford MW, Dean JC, Cornelius N, et al. ETFDH mutations as a major cause of riboflavin-responsive multiple acyl-CoA dehydrogenation deficiency. Brain. 2007;130:2045–54.

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

5. Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17:405–24.

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