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Propionic Acidemia with Novel Mutation Presenting as Recurrent Pancreatitis in a Child
Propionic acidemia (PA) is a rare organic acidemia resulting from a deficiency of the mitochondrial enzyme propionyl-coenzyme A carboxylase. Most cases are diagnosed after the detection of metabolic abnormalities—such as hyperammonemia, metabolic acidosis, and ketosis—associated with complaints of v...
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| Publicado no: | J Korean Med Sci |
|---|---|
| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
The Korean Academy of Medical Sciences
2019
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6900407/ https://ncbi.nlm.nih.gov/pubmed/31808324 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2019.34.e303 |
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