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Brain-lung-thyroid syndrome in a neonate with argininosuccinate lyase deficiency
Argininosuccinate lyase (ASL) deficiency is a rare autosomal recessive urea cycle disorder. The severe neonatal-onset form is characterised by hyperammonaemia in the first days of life and manifests with a variety of severe symptoms. However, an index of suspicion for additional or alternative diagn...
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| Publicado no: | BMJ Case Rep |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Publishing Group
2021
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC8016098/ https://ncbi.nlm.nih.gov/pubmed/33789861 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2020-241032 |
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