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Case Reports in Genetics|February 25, 2020
A Tanzanian Boy with Molecularly Confirmed X-Linked AdrenoleukodystrophyM C J Dekker, A M Sadiq, R Mc Larty, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|March 17, 2026
Serum alpha fetoprotein in Ataxia Telangiectasia: New lessons about an old biomarkerS J G Veenhuis, N J H van Os, A E H Swinkels, et al.
Magma (New York, N.Y.)|May 26, 2004
Transmit/receive headcoil for optimal 1H MR spectroscopy of the brain in paediatric patients at 3TD W J Klomp, M van der Graaf, M A A P Willemsen, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|August 14, 2017
Telangiectasias: Small lesions referring to serious disordersJ H Schieving, M H D Schoenaker, C M Weemaes, et al.
Journal of Medical Genetics|August 23, 2011
Autosomal recessive cerebellar ataxias: the current state of affairsS Vermeer, B P C van de Warrenburg, M A A P Willemsen, et al.
Molecular Genetics and Metabolism|September 14, 2010
Urinary dopamine in aromatic L-amino acid decarboxylase deficiency: the unsolved paradoxT Wassenberg, M A A P Willemsen, P B H Geurtz, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|January 22, 2015
The diagnostic pathway in complex paediatric neurology: a cost analysisK J M van Nimwegen, J H Schieving, M A A P Willemsen, et al.
Clinical Genetics|December 15, 2015
Health risks for ataxia-telangiectasia mutated heterozygotes: a systematic review, meta-analysis and evidence-based guidelineN J H van Os, N Roeleveld, C M R Weemaes, et al.
NMR in Biomedicine|February 23, 2010
In vivo proton MR spectroscopy findings specific for adenylosuccinate lyase deficiencyM Henneke, S Dreha-Kulaczewski, K Brockmann, et al.
Journal of Neuromuscular Diseases|June 23, 2020
Facilitators and Barriers to Wearing Hand Orthoses by Adults with Duchenne Muscular Dystrophy: A Mixed Methods Study DesignS L S Houwen-van Opstal, Y M E M van den Elzen, M Jansen, et al.
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