The neuropsychological profile of galactosaemia
Author:
Publisher
Wiley
Subject
Genetics (clinical),Genetics
Link
http://www.springerlink.com/index/pdf/10.1007/s10545-010-9154-y
Reference29 articles.
1. Antshel KM, Epstein IO, Waisbren E (2004) Cognitive strengths and weaknesses in children and adolescents homozygous for the galactosemia Q188R mutation: A descriptive study. Neuropsychol 18:658–644
2. Beutler E, Baluda M, Donnell G (1995) A new method for the detection of galactosaemia and its carrier state. J Lab Clin Med 64:646–658
3. Bhat M, Haase C, Lee P (2005) Social outcome in treated individuals with inherited metabolic disorders: UK study. J Inherit Metab Dis 28:825–830
4. Bosch AM (2006) Classical galactosaemia revisited. J Inherit Metab Dis 29:516–525
5. Bosch AM, Grootenhuis MA, Bakker HD et al (2004) Living with classical galactosemia: Health-related quality of life consequences. Pediatrics 113:5423–5428
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