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Journal of Inherited Metabolic Disease|January 9, 2009
Phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKUF J van Spronsen, M van Rijn, B Dorgelo, et al.Molecular Genetics and Metabolism|January 3, 2022
The increasing importance of LNAA supplementation in phenylketonuria at higher plasma phenylalanine concentrationsD van Vliet, E van der Goot, W G van Ginkel, et al.European Journal of Pediatrics|September 1, 1995
Information processing in patients with early and continuously-treated phenylketonuriaB A Stemerdink, J J van der Meere, M W van der Molen, et al.European Journal of Pediatrics|August 3, 2000
End-stage liver disease as the only consequence of a mitochondrial respiratory chain deficiency: no contra-indication for liver transplantationJ P Rake, F J van Spronsen, G Visser, et al.Journal of Inherited Metabolic Disease|January 26, 2006
The intake of total protein, natural protein and protein substitute and growth of height and head circumference in Dutch infants with phenylketonuriaM Hoeksma, M Van Rijn, P H Verkerk, et al.Human Heredity|July 1, 1996
Phenylketonuria in The Netherlands: 93% of the mutations are detected by single-strand conformation analysisC J van der Sijs-Bos, C M Diepstraten, J A Juyn, et al.Orphanet Journal of Rare Diseases|September 2, 2016
Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type CL H Koens, A Kuiper, M A Coenen, et al.Journal of Inherited Metabolic Disease|March 31, 2024
The clinical relevance of novel biomarkers as outcome parameter in adults with phenylketonuriaA M J van Wegberg, J C van der Weerd, U F H Engelke, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|April 18, 2018
Pyridoxine dependent epilepsy: Is late onset a predictor for favorable outcome?R L P de Rooy, F J Halbertsma, E A Struijs, et al.Orphanet Journal of Rare Diseases|July 2, 2020
PKU dietary handbook to accompany PKU guidelinesA MacDonald, A M J van Wegberg, K Ahring, et al.Pageof 8