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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...

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Detalles Bibliográficos
Autores principales:	Abe, Yu, Aihara, Yu, Endo, Wakaba, Hasegawa, Hiroshi, Ichida, Kimiyoshi, Uematsu, Mitsugu, Kure, Shigeo
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Elsevier 2021
Materias:	Research Paper
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7859290/ https://www.ncbi.nlm.nih.gov/pubmed/33552910 http://dx.doi.org/10.1016/j.ymgmr.2021.100716

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