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Methylmalonic acidemia: 6 years' clinical experience with two variants unresponsive to vitamin B(12) therapy
Two infants with lethargy, vomiting, convulsions, coma and marked metabolic acidosis were found to have very high concentrations of methylmalonic acid in their serum and urine. In vitro studies of fibroblasts demonstrated that the infants had different variants of methylmalonic acidemia. Vitamin B(1...
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| Main Authors: | , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
1979
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1819187/ https://ncbi.nlm.nih.gov/pubmed/36217 |
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