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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Detalles Bibliográficos
Autores principales: Häberle, Johannes, Chakrapani, Anupam, Ah Mew, Nicholas, Longo, Nicola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273/
https://www.ncbi.nlm.nih.gov/pubmed/30522498
http://dx.doi.org/10.1186/s13023-018-0963-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6282273/
https://www.ncbi.nlm.nih.gov/pubmed/30522498
http://dx.doi.org/10.1186/s13023-018-0963-7

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