Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency-Reference-Cited by-同舟云学术

Novel ETFDH mutations in four cases of riboflavin responsive multiple acyl-CoA dehydrogenase deficiency

Published:2018-09 Issue: Volume:16 Page:15-19
ISSN:2214-4269
Container-title:Molecular Genetics and Metabolism Reports
language:en
Short-container-title:Molecular Genetics and Metabolism Reports

Author:

Fan Xin,Xie Bobo,Zou Jun,Luo Jingsi,Qin Zailong,D'Gama Alissa M.,Shi Jiahai,Yi Shang,Yang Qi,Wang Jin,Luo Shiyu,Chen Shaoke,Agrawal Pankaj B.,Li Qifei,Shen Yiping

Funder

NIGMS

NIH/NIAMS

NICHD/NHGRI/NIH

Publisher

Elsevier BV

Subject

Endocrinology,Genetics,Molecular Biology

Reference27 articles.

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2. Clear relationship between ETF/ETFDH genotype and phenotype in patients with multiple acyl-CoA dehydrogenation deficiency;Olsen;Hum. Mutat.,2003

3. Multiple acyl-CoA dehydrogenase deficiency;Angelini;Genetic Neuromusc. Disord.,2014

4. Biochemical studies in a patient with defects in the metabolism of acyl-CoA and sarcosine: another possible case of glutaric aciduria type II;Gregersen;J. Inherit. Metab. Dis.,1980

5. Acyl-CoA dehydrogenases: dynamic history of protein family evolution;Swigonova;J. Mol. Evol.,2009

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