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Disability and Rehabilitation Volume 41, 2019 - Issue 22
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Research Paper

The need for additional care in patients with classical galactosaemia

Lindsey WellingDepartment of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands; View further author information
,
Anke Meester-DelverDepartment of Rehabilitation, Academic Medical Center, Amsterdam, The Netherlands; View further author information
,
Terry G. DerksSection of Metabolic Diseases, Beatrix Children’s Hospital, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands; View further author information
,
Mirian C. H. JanssenDepartment of Internal Medicine, Radboud University Medical Center, Nijmegen, The Netherlands; View further author information
,
Carla E. M. HollakDepartment of Internal Medicine, Division of Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands; View further author information
,
Maaike de VriesDepartment of Pediatrics, Radboud University Medical Center, Nijmegen, The NetherlandsView further author information
&
Annet M. BoschDepartment of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands; Correspondence[email protected]
View further author information
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Pages 2663-2668 | Received 28 Dec 2017, Accepted 08 May 2018, Published online: 31 May 2018

References

  • Berry GT. Classic galactosemia and clinical variant galactosemia. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews [Internet]. Seattle (WA): University of Washington; 1993–2018.
  • Bosch AM. Classical galactosaemia revisited. J Inherit Metab Dis. 2006;29:516–525.
  • Meester-Delver A, Beelen A, Hennekam R, et al. The Capacity Profile: a method to classify additional care needs in children with neurodevelopmental disabilities. Dev Med Child Neurol. 2007;49:355–360.
  • Welling L, Bernstein LE, Berry GT, et al. International clinical guideline for the management of classical galactosemia: diagnosis, treatment, and follow-up. J Inherit Metab Dis. 2017;40:171–176.
  • Meester-Delver A, Beelen A, Ketelaar M, et al. Construct validity of the Capacity Profile in preschool children with cerebral palsy. Dev Med Child Neurol. 2009;51:446–453.
  • Meester-Delver A, Beelen A, Van Eck M, et al. Construct validity of the Capacity Profile in adolescents with cerebral palsy. Clin Rehabil. 2010;24:258–266.
  • Gibbs J, Appleton J, Appleton R. Dyspraxia or developmental coordination disorder? Unravelling the enigma. Arch Dis Child. 2007;92:534–539.
  • Berry GT, Palmieri M, Gross KC, et al. The effect of dietary fruits and vegetables on urinary galactitol excretion in galactose-1-phosphate uridyltransferase deficiency. J Inherit Metab Dis. 1993;16:91–100.

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