UNLABELLED: 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.
UNLABELLED: 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.
Authors: Edward S Y Wong; Chantelle McIntyre; Heidi L Peters; Enzo Ranieri; Donald S Anson; Janice M Fletcher Journal: Hum Gene Ther Date: 2014-04-02 Impact factor: 5.695
Authors: Hilary J Vernon; C John Sperati; Joshua D King; Andrea Poretti; Neil R Miller; Jennifer L Sloan; Andrew M Cameron; Donna Myers; Charles P Venditti; David Valle Journal: J Inherit Metab Dis Date: 2014-06-25 Impact factor: 4.982
Authors: Peter J Mc Guire; Elizabeth Lim-Melia; George A Diaz; Kimiyo Raymond; Alexandra Larkin; Melissa P Wasserstein; Claude Sansaricq Journal: Mol Genet Metab Date: 2007-10-26 Impact factor: 4.797