Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
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United States: John Wiley & Sons, Inc
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Language
English
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Publisher
United States: John Wiley & Sons, Inc
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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 neonatal period with severe encephalopathy, incl...
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Full title
Mild phenotype in Molybdenum cofactor deficiency: A new patient and review of the literature
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TN_cdi_doaj_primary_oai_doaj_org_article_ed436da5c3564a48a7b5eea4b6ac06a4
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_ed436da5c3564a48a7b5eea4b6ac06a4
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ISSN
2324-9269
E-ISSN
2324-9269
DOI
10.1002/mgg3.657
