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Hypomorphic citrullinaemia due to mutated ASS1 with episodic ataxia
Children with citrullinaemia commonly present in the neonatal period with life-threatening hyperammonaemia and progressive encephalopathy. Less often, ‘hypomorphic’ or mild late-onset childhood or adult-onset forms may be seen with intermittent neurological symptoms or acute crisis in pregnancy. We...
Gardado en:
| Publicado en: | BMJ Case Rep |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMJ Publishing Group
2018
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5926573/ https://ncbi.nlm.nih.gov/pubmed/29695388 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2017-220193 |
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