Urinary stones as the initial presentation in a child with late-onset molybdenum cofactor deficiency type B: a case report and review of literature
Abstract Background Molybdenum cofactor deficiency (MoCD) is a rare genetic disease primarily affecting the nervous system. While xanthinuria is a typical feature of MoCD, xanthine stones have been rarely described. Herein, we report the first case of MoCD who presented with urinary xanthine stones...
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| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SpringerOpen
2025-06-01
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| Series: | Egyptian Journal of Medical Human Genetics |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s43042-025-00720-9 |
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