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...

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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

Internet

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

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