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Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis

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Journal of Inherited Metabolic Disease

Summary

A patient with methylmalonic acidaemia was initially misdiagnosed on the basis of an organic acid profile as having propionic acidaemia during a period of ketosis

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References

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Authors and Affiliations

  1. Centro de Metabolismos e Genética (INIC), Faculdade de Farmácia, Av. das Forças Armadas, 1600, Lisboa, Portugal

    I. Tavares de Almeida, M. F. B. Silva & C. Silveira

  2. University Children's Hospital Het Wilhelmina Kinderziekenhuis, Utrecht, the Netherlands

    M. Duran

  3. Unid. Doenças Metabólicas, S. Ped., Hosp. Sta. Maria, Lisboa, Portugal

    R. Portela, A. Cabral, T. Tasso & F. Eusébio

Authors
  1. I. Tavares de Almeida
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  2. M. Duran
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  3. M. F. B. Silva
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  4. R. Portela
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  5. A. Cabral
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  6. T. Tasso
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  7. F. Eusébio
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  8. C. Silveira
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Tavares de Almeida, I., Duran, M., Silva, M.F.B. et al. Mild form of methylmalonic aciduria misdiagnosed as propionic acidaemia during a ketotic crisis. J Inherit Metab Dis 14, 259–262 (1991). https://doi.org/10.1007/BF01800600

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  • DOI: https://doi.org/10.1007/BF01800600

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