Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Abstract Background Molybdenum cofactor deficiency (MoCD) is a rare autosomal‐recessive disorder that results in the combined deficiency of molybdenum‐dependent enzymes. Four different genes are involved in Molybdenum cofactor biosynthesis: MOCS1, MOCS2, MOCS3, and GEPH. The classical form manifests...
| Autori principali: | , , , , , |
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| Natura: | Articolo |
| Lingua: | English |
| Pubblicazione: |
Wiley
2019-06-01
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| Serie: | Molecular Genetics & Genomic Medicine |
| Soggetti: | |
| Accesso online: | https://doi.org/10.1002/mgg3.657 |