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Hyperammonaemia in classic organic acidaemias: a review of the literature and two case histories
BACKGROUND: The ‘classic’ organic acidaemias (OAs) (propionic, methylmalonic and isovaleric) typically present in neonates or infants as acute metabolic decompensation with encephalopathy. This is frequently accompanied by severe hyperammonaemia and constitutes a metabolic emergency, as increased am...
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| Publicado no: | Orphanet J Rare Dis |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BioMed Central
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6282273/ https://ncbi.nlm.nih.gov/pubmed/30522498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0963-7 |
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