The effect of dietary protein restriction in a case of molybdenum cofactor deficiency with MOCS1 mutation

Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism that results from mutations in genes involved in molybdenum cofactor (Moco) biosynthesis. MoCD is characterized clinically by intractable seizures and severe, rapidly progressing neurodegeneration leading to d...

Cur síos iomlán

Na minha lista:
Sonraí Bibleagrafaíochta
Foilsithe in:Mol Genet Metab Rep
Main Authors: Abe, Yu, Aihara, Yu, Endo, Wakaba, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Uematsu, Mitsugu, Kure, Shigeo
Formáid: Artigo
Teanga:Inglês
Foilsithe: Elsevier 2021
Ábhair:
Research Paper
Rochtain Ar Líne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7859290/
https://ncbi.nlm.nih.gov/pubmed/33552910
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2021.100716
Clibeanna: Cuir Clib Leis
Gan Chlibeanna, Bí ar an gcéad duine leis an taifead seo a chlibeáil!

Míreanna Comhchosúla