The Value of Liver Transplantation for Methylmalonic Acidemia
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Baumgartner, 2014, Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia, Orphanet J Rare Dis., 9, 130, 10.1186/s13023-014-0130-8
Fowler, 2008, Causes of and diagnostic approach to methylmalonic acidurias, J Inherit Metab Dis., 31, 350, 10.1007/s10545-008-0839-4
Ledley, 1988, Mapping of human methylmalonyl CoA mutase (MUT) locus on chromosome 6, Am J Hum Genet., 42, 839
Keyfi, 2016, Methylmalonic acidemia diagnosis by laboratory methods, Rep Biochem Mol Biol., 5, 1
Fraser, 2016, Methylmalonic and propionic acidemias: clinical management update, Curr Opin Pediatr., 28, 682, 10.1097/MOP.0000000000000422
van, 1994, Clinical outcome of long-term management of patients with vitamin B12-unresponsive methylmalonic acidemia, J Pediatr., 125, 903, 10.1016/S0022-3476(05)82005-0
Horster, 2007, Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB), Pediatr Res., 62, 225, 10.1203/PDR.0b013e3180a0325f
de, 2005, Methylmalonic and propionic acidaemias: management and outcome, J Inherit Metab Dis., 28, 415, 10.1007/s10545-005-7056-1
Matsui, 1983, The natural history of the inherited methylmalonic acidemias, N Engl J Med., 308, 857, 10.1056/NEJM198304143081501
Cosson, 2009, Long-term outcome in methylmalonic aciduria: a series of 30 French patients, Mol Genet Metab., 97, 172, 10.1016/j.ymgme.2009.03.006
Prada, 2011, Cardiac disease in methylmalonic acidemia, J Pediatr., 159, 862, 10.1016/j.jpeds.2011.06.005
Traber, 2011, Subacute bilateral visual loss in methylmalonic acidemia, J Neuro Ophthalmol., 31, 344, 10.1097/WNO.0b013e31822db480
Leonard, 1995, The management and outcome of propionic and methylmalonic acidaemia, J Inherit Metab Dis., 18, 430, 10.1007/BF00710054
Goyens, 1997, Liver transplantation for methylmalonyl CoA mutase deficiency, J Inherit Metab Dis., 20, 38
Morioka, 2007, Efficacy of living donor liver transplantation for patients with methylmalonic acidemia, Am J Transplant., 7, 2782, 10.1111/j.1600–6143.2007.01986.x
Kamei, 2011, Preoperative dialysis for liver transplantation in methylmalonic acidemia, Ther Apheresis Dialysis., 15, 488, 10.1111/j.1744-9987.2011.00974.x
van't, 1999, Liver transplantation for methylmalonic acidaemia, Eur J Pediatr., 158, S70, 10.1007/PL00014326
Niemi, 2015, Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation, J Pediatr., 166, 1455, 10.1016/j.jpeds.2015.01.051
Chen, 2010, Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation, Pediatr Transplant., 14, 337, 10.1111/j.1399-3046.2009.01227.x
Sakamoto, 2016, Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant, Pediatr Transplant., 20, 1081, 10.1111/petr.12804
Mc, 2008, Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature, Mol Genet Metab., 93, 22, 10.1016/j.ymgme.2007.08.119
Nyhan, 2002, Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver, Eur J Pediatr., 161, 377, 10.1007/s00431-002-0970-4
Critelli, 2018, Liver transplantation for propionic acidemia and methylmalonic acidemia: perioperative management and clinical outcomes, Liver Transplant., 24, 1260, 10.1002/lt.25304
Khanna, 2016, Successful domino liver transplantation from a patient with methylmalonic acidemia, JIMD Rep., 25, 87, 10.1007/8904_2015_480
Chakrapani, 2002, Metabolic stroke in methylmalonic acidemia five years after liver transplantation, J Pediatr., 140, 261, 10.1067/mpd.2002.121698
Chandler, 2007, Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle, BMC Med Genet., 8, 64, 10.1186/1471-2350-8-64
Kaplan, 2006, Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency, Mol Genet Metabol., 88, 322, 10.1016/j.ymgme.2006.04.003
Spada, 2015, Early liver transplantation for neonatal-onset methylmalonic acidemia, Pediatrics., 136, e252, 10.1542/peds.2015-0175
Vernon, 2014, A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut 0 methylmalonic acidemia, J Inherit Metab Dis., 37, 899, 10.1007/s10545-014-9730-7
Ma, 2011, Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis, Brain Dev., 33, 790, 10.1016/j.braindev.2011.06.001
Kasahara, 2014, Living donor liver transplantation for pediatric patients with metabolic disorders: the Japanese multicenter registry, Pediatr Transplant., 18, 6, 10.1111/petr.12196
Andrews, 1993, Expression of recombinant human methylmalonyl-CoA mutase: in primary mut fibroblasts and Saccharomyces cerevisiae, Biochem Med Metab Biol., 50, 135, 10.1006/bmmb.1993.1055
Li, 2015, Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias, Liver Transplant., 21, 1208, 10.1002/lt.24173
de, 1996, Intrastriatal methylmalonic acid administration induces rotational behavior and convulsions through glutamatergic mechanisms, Brain Res., 721, 120, 10.1016/0006-8993(96)00117-5
Smith, 1981, The energy metabolism of the brain, The Molecular Basis of Neuropathology
Hauser, 2011, Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations, Am J Clin Nutr., 93, 47, 10.3945/ajcn.110.004341
Manoli, 2013, Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia, Proc Natl Acad Sci USA., 110, 13552, 10.1073/pnas.1302764110
Kruszka, 2013, Renal growth in isolated methylmalonic acidemia, Genet Med., 15, 990, 10.1038/gim.2013.42
Fujisawa, 2013, Clinical features and management of organic acidemias in Japan, J Hum Genet., 58, 769, 10.1038/jhg.2013.97
Morath, 2013, Renal dysfunction in methylmalonic acidurias: review for the pediatric nephrologist, Pediatr Nephrol., 28, 227, 10.1007/s00467-012-2245-2
Israeli, 2008, ImmuKnow: a new parameter in immune monitoring of pediatric liver transplantation recipients, Liver Transplant., 14, 893, 10.1002/lt.21426
Sloan, 2015, Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when?, J Pediatr., 166, 1346, 10.1016/j.jpeds.2015.03.026