A neonate with molybdenum cofactor deficiency type B

Molybdenum cofactor deficiency (MoCD) is an autosomal recessive disease which leads to a combined deficiency of molybdenum cofactor dependent enzymes. There are four different genes in molybdenum cofactor biosynthesis, MOCS1, MOCS2, MOCS3, GEPH. The patients with MOCS2 homozygous mutation who onset...

Descripción completa

Detalles Bibliográficos
Autores principales: Lin, Yuanyuan, Liu, Yanli, Chen, Si, Zhu, Jianghu, Huang, Yumei, Lin, Zhenlang, Chen, Shangqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: AME Publishing Company 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8107882/
https://www.ncbi.nlm.nih.gov/pubmed/34012852
http://dx.doi.org/10.21037/tp-20-357

Ejemplares similares

Ejemplares similares