Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation
Tóm tắt
Từ khóa
Tài liệu tham khảo
Deodato, 2006, Methylmalonic and propionic aciduria, Am J Med Genet C Semin Med Genet, 142, 104, 10.1002/ajmg.c.30090
Fenton, 2001, The Metabolic and Molecular Bases of Inherited Disease, 2165
Matsui, 1983, The natural history of the inherited methylmalonic acidemias, N Engl J Med, 308, 857, 10.1056/NEJM198304143081501
Baumgarter, 1995, Long-term follow-up of 77 patients with isolated methylmalonic acidaemia, J Inherit Metab Dis, 18, 138, 10.1007/BF00711749
Dionisi-Vici, 2006, ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long-term outcome and effects of expanded newborn screening using tandem mass spectrometry, J Inherit Metab Dis, 29, 383, 10.1007/s10545-006-0278-z
De Baulny, 2005, Methylmalonic and propionic acidaemias: Management and outcome, J Inherit Metab Dis, 28, 415, 10.1007/s10545-005-7056-1
Rousson, 1984, Long term outcome of organic acidurias: Survey of 105 French cases (1967-1983), J Inherit Metab Dis, 7, 10, 10.1007/BF03047366
Rutledge, 1993, Tubulointerstitial nephritis in methylmalonic acidemia, Pediatr Nephrol, 7, 81, 10.1007/BF00861581
Kasahara, 2006, Current role of liver transplantation for methylmalonic acidemia: A review of the literature, Pediatr Transplant, 10, 943, 10.1111/j.1399-3046.2006.00585.x
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
Hsui, 2003, Living-related liver transplantation for methylmalonic acidemia: Report of one case, Acta paediatrica Taiwanica (Taiwan er ke yi xue hui za zhi), 44, 171
Huang, 2005, Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism, J Formos Med Assoc (Taiwan yi zhi), 104, 623
Lee, 2008, Brain damage by mild metabolic derangements in methylmalonic acidemia, Pediatr Neurol, 39, 325, 10.1016/j.pediatrneurol.2008.07.018
Kaplan, 2006, Liver transplantation is not curative for methylmalonic acidopathy caused by methylmalonyl-CoA mutase deficiency, Mol Genet Metab, 88, 322, 10.1016/j.ymgme.2006.04.003
McGuire, 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
La Marca, 2007, Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: Reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry, Clin Chem, 53, 1364, 10.1373/clinchem.2007.087775
Chace, 2001, Rapid diagnosis of methylmalonic and propionic acidemias: Quantitative tandem mass spectrometric analysis of propionylcarnitine in filter-paper blood specimens obtained from newborns, Clin Chem, 47, 2040, 10.1093/clinchem/47.11.2040
Huang, 2006, Tandem mass neonatal screening in Taiwan - Report from one center, J Formos Med Assoc (Taiwan yi zhi), 105, 882, 10.1016/S0929-6646(09)60173-X
Chakrapani, 2002, Metabolic stroke in methylmalonic acidemia five years after liver transplantation, J Pediatr, 140, 261, 10.1067/mpd.2002.121698
Campbell, 2005, Two newborns with nutritional vitamin B12 deficiency: Challenges in newborn screening for vitamin B12 deficiency, Haematologica, 90, ECR45
Frazier, 2006, The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005, J Inherit Metab Dis, 29, 76, 10.1007/s10545-006-0228-9
Magera, 2000, Methylmalonic acid measured in plasma and urine by stable-isotope dilution and electrospray tandem mass spectrometry, Clin Chem, 46, 1804, 10.1093/clinchem/46.11.1804