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Biotinidase deficiency – clinching the diagnosis rapidly can make all the difference!
A 2-month-old male infant, born of second degree consanguineous parentage, presented with seizures not responding to phenytoin and phenobarbitone. His perinatal period had been uneventful and there was no family history of seizures. On examination, he had failure to thrive, perioral and perianal ras...
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| Main Authors: | , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3185397/ https://ncbi.nlm.nih.gov/pubmed/22679321 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr.07.2011.4494 |
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