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Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
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 in the...
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| 出版年: | Mol Genet Genomic Med |
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| 主要な著者: | , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2019
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6565584/ https://ncbi.nlm.nih.gov/pubmed/30900395 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.657 |
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