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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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| Udgivet i: | Transl Pediatr |
|---|---|
| Main Authors: | , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
AME Publishing Company
2021
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8107882/ https://ncbi.nlm.nih.gov/pubmed/34012852 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.21037/tp-20-357 |
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