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

Multiple acyl-CoA dehydrogenase deficiency (MADD) is an autosomal recessive disorder of fatty acid, amino acid, and choline metabolism caused by mutations in EFTA, EFTB, or ETFDH. Many MADD patients are responsive to treatment with riboflavin, termed riboflavin-responsive MADD (RR-MADD). Here, we re...

Full beskrivning

Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Metab Rep
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2018
Ämnen:
Research Paper
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC6031868/
https://ncbi.nlm.nih.gov/pubmed/29988809
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2018.05.007
Taggar: Lägg till en tagg
Inga taggar, Lägg till första taggen!

Liknande verk