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Novel Imaging Finding and Novel Mutation in an Infant with Molybdenum Cofactor Deficiency, a Mimicker of Hypoxic-Ischaemic Encephalopathy
Molybdenum cofactor deficiency is a rare metabolic disorder manifesting with early onset seizures, developmental delay, microcephaly, and spasticity. In this report, we describe a three-month-old infant with neonatal onset, poorly controlled seizures, developmental delay, microcephaly, spastic quadr...
Zapisane w:
| Wydane w: | Iran J Child Neurol |
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| Główni autorzy: | , , , , , |
| Format: | Artigo |
| Język: | Inglês |
| Wydane: |
Shahid Beheshti University of Medical Sciences
2018
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| Hasła przedmiotowe: | |
| Dostęp online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5904745/ https://ncbi.nlm.nih.gov/pubmed/29696052 |
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