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Rare cause of xanthinuria: a pediatric case of molybdenum cofactor deficiency B
Molybdenum cofactor is essential for the activity of multiple enzymes including xanthine dehydrogenase. Molybdenum cofactor deficiencies are rare inborn errors of metabolism. Clinically, they present with intractable seizures, axial hypotonia, and hyperekplexia. They further develop cerebral atrophy...
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| Gepubliceerd in: | CEN Case Rep |
|---|---|
| Hoofdauteurs: | , , , , |
| Formaat: | Artigo |
| Taal: | Inglês |
| Gepubliceerd in: |
Springer Singapore
2021
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| Onderwerpen: | |
| Online toegang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8271046/ https://ncbi.nlm.nih.gov/pubmed/33502714 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s13730-021-00572-3 |
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