Atlas of Inherited Metabolic Diseases 3E by Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

By Nyhan, William L.; Barshop, Bruce Allen; Al-Aqeel, Aida I

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Pancreatitis in patients with organic acidemias. J Pediatr 1994; 124: 239. 53. Shevell MI, Matiaszuk N, Ledley FD, Rosenblatt DS. Varying neurological phentypes among mut0 and mut2 patients with methylmalonylCoA mutase deficiency. Am J Med Genet 1993; 45: 619. 54. Lind S, Westgren M, Angelin B, von Dobeln U. Successful pregnancy in a young woman with methylmalonic acidaemia and a two-year follow-up of the child. ): 48. 55. Deodato F, Rizzo C, Boenzi S et al. Successful pregnancy in a woman with mut2 methylmalonic acidaemia.

The functional phenotype of an inborn error of metabolism: outlining impairment and disability of methylmalonic acidemia. ). 30. Matsui SM, Mahoney MJ, Rosenberg LE. The natural history 31. 32. 33. 34. 35. 36. 37. 38. 39. 40. 41. 42. 43. 44. 45. 46. 47. 48. 49. of the inherited methylmalonic acidemias. N Engl J Med 1983; 308: 857. Nicolaides P, Leonard J, Surtees R. Neurological outcome of methylmalonic acidaemia. Arch Dis Child 1998; 78: 508. Nyhan WL, Gargus J, Boyle K et al. Progressive neurologic disability in methymalonic acidemia despite transplantation of the liver.

3. Rosenberg LE, Lilljeqvist A-C, Hsia YE. Methylmalonic aciduria: an inborn error leading to metabolic acidosis, long chain ketonuria and intermittent hyperglycinemia. N Engl J Med 1968; 278: 1319. 4. Rosenberg LE, Lilljeqvist A-C, Hsia YE. Methylmalonic aciduria: metabolic block localization and vitamin B12 dependency. Science 1968; 162: 805. 5. Mudd SH, Levy HL, Abeles RH. A derangement in B12 metabolism leading to homocystinemia, cystathioninemia and methylmalonic aciduria. Biochem Biophys Res Commun 1969; 35: 1121.

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