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LETTER TO THE EDITOR

Different outcome in isovaleric acidemia might be related to unsatisfactory diet compliance

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Pages 767-768 | Received 10 Jan 2008, Published online: 08 Jul 2009

References

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  • Ensenauer R, Vockley J, Willard JM, Huey JC, Sass JO, Edland SD, et al. A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Human Genet 2004; 75: 1136–42
  • Vockley J, Ensenauer R. Isovaleric acidemia: new aspects of genetic and phenotypic heterogeneity. Am J Med Genet C Semin Med Genet 2006; 142: 95–103
  • Cohn RM, Yudkoff R, Rothman R, Segal S. Isovaleric acidemia: use of glycine therapy in neonates. N Engl J Med 1978; 299: 996–9
  • Kalher SG, Sherwood G, Woolf D, Lawless S, Zaritsky A, Bonham J, et al. Pancreatitis in patients with organic acidemias. J Pediatr 1994; 124: 239–43

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