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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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| 發表在: | CEN Case Rep |
|---|---|
| Main Authors: | , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Springer Singapore
2021
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| 主題: | |
| 在線閱讀: | 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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