Metabole Ziekten AMC

Mentale retardatie

Meer info

  • NVK website Evidence based richtlijn voor de initiële diagnostiek bij kinderen met een globale ontwikkelingsachterstand/ mentale retardatie
  • S Kahler and M Fahey. Metabolic disorders and mental retardation. (2003) Am J Med Gen part C (semin med genet) 117C:31-41
  • Karnebeek van CD, Jansweijer MC, Leenders AG, Offringa M, Hennekam RC. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet. 2005 Jan;13(1):6-25
  • Moeschler JB, Shevell M and the committee on Genetics. Clinical genetic evaluation of the child with mental retardation or developmental delays. Pediatrics 2006;117:2304-2316
  • Engbers HM, Berger R, van Hasselt P, de Koning T, de Sain-van der Velden GM, Kroes HY, Visser G. Yield of additional metabolic studies in neurodevelopmental disorders. Ann Neurol 2008;64:212-217
  • Ledbetter DH. Cytogenetic technology – genotype and phenotype. N Engl J Med 2008;359:1728-1730
metabole ziekten AMC