Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemia

Author:

Kuiper Anouk1,Grünewald Stephanie2,Murphy Elaine3,Coenen Maraike A.4,Eggink Hendriekje1,Zutt Rodi1,Rubio-Gozalbo Maria E.5,Bosch Annet M.6,Williams Monique7,Derks Terry G. J.8,Lachmann Robin H. L.3,Brouwers Martijn C. G. J.9,Janssen Mirian C. H.10,Tijssen Marina A.1,de Koning Tom J.18

Affiliation:

1. Department of Neurology, University Medical Center Groningen; University of Groningen; Groningen The Netherlands

2. Department of Metabolic medicine; Great Ormond Street Hospital for Children, UCL Institute of Child Health; London UK

3. Charles Dent Metabolic Unit; The National Hospital for Neurology and Neurosurgery; London UK

4. Department of Clinical Neuropsychology; University of Groningen, University Medical Center Groningen; Groningen The Netherlands

5. Department of Pediatrics; Maastricht University Medical Center; Maastricht The Netherlands

6. Department of Pediatrics; University of Amsterdam, Academic Medical Center; Amsterdam The Netherlands

7. Department of Pediatrics, Center of Lysosomal and Metabolic Diseases; Erasmus University Medical Center; Rotterdam The Netherlands

8. Department of Pediatrics; University of Groningen, University Medical Center Groningen; Groningen The Netherlands

9. Department of Internal Medicine; Maastricht University Medical Center; Maastricht The Netherlands

10. Department of Pediatrics; Radboud University Medical Center; Nijmegen The Netherlands

Funder

COST Action BM1101

Metakids & Ride4Kids

ZonMw (NL) PM RARE

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference25 articles.

1. Long-term outcome in 134 patients with galactosaemia;Schweitzer;Eur J Pediatr,1993

2. Long-term prognosis in galactosaemia: results of a survey of 350 cases;Waggoner;J Inherit Metab Dis,1990

3. The adult galactosemic phenotype;Waisbren;J Inherit Metab Dis,2012

4. Cognitive functioning, neurologic status and brain imaging in classical galactosemia;Kaufman;Eur J Pediatr,1995

5. An updated review of the long-term neurological effects of galactosemia;Ridel;Pediatr Neurol,2005

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