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Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver

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European Journal of Pediatrics Aims and scope Submit manuscript

Abstract.

Methylmalonic acidemia unresponsive to cobalamin is often fatal in infancy. Patients have been considered candidates for hepatic transplantation and experience has been that the procedure eliminates the life-threatening episodes of ketoacidosis that characterize this disease. Conclusion: experience with a 24-year-old patient treated with hepatic transplantation indicates that this procedure does not prevent progressive renal failure and neurologic dysfunction.

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Nyhan, W.L., Gargus, J.J., Boyle, K. et al. Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. Eur J Pediatr 161, 377–379 (2002). https://doi.org/10.1007/s00431-002-0970-4

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  • DOI: https://doi.org/10.1007/s00431-002-0970-4

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