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Orphanet Journal of Rare Diseases|September 3, 2020
Correction to: PKU dietary handbook to accompany PKU guidelinesA MacDonald, A M J van Wegberg, K Ahring, et al.Biochimica Et Biophysica Acta|March 3, 2011
Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin patternM Mohamed, M Guillard, S B Wortmann, et al.European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|June 21, 2021
Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross-sectional studyM Strijker, L A Tseng, L K van Avezaath, et al.Orphanet Journal of Rare Diseases|October 14, 2017
The complete European guidelines on phenylketonuria: diagnosis and treatmentA M J van Wegberg, A MacDonald, K Ahring, et al.Psychological Medicine|May 30, 2017
Cerebral dopamine deficiency, plasma monoamine alterations and neurocognitive deficits in adults with phenylketonuriaE Boot, C E M Hollak, S C J Huijbregts, et al.Molecular Genetics and Metabolism|May 16, 2025
European guidelines on diagnosis and treatment of phenylketonuria: First revisionA M J van Wegberg, A MacDonald, K Ahring, et al.Journal of Inherited Metabolic Disease|August 7, 2023
Maleic acid is a biomarker for maleylacetoacetate isomerase deficiency; implications for newborn screening of tyrosinemia type 1K van Vliet, A M Dijkstra, M J Bouva, et al.Molecular Genetics and Metabolism|February 21, 2021
Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countriesR A F Evers, A M J van Wegberg, K Ahring, et al.Clinical Nutrition (Edinburgh, Scotland)|January 16, 2021
High protein prescription in methylmalonic and propionic acidemia patients and its negative association with long-term outcomeF Molema, H A Haijes, M C Janssen, et al.JIMD Reports|December 26, 2024
Development of the Dutch translational knowledge agenda for inherited metabolic diseasesI J Hieltjes, J H van der Lee, M C Groenendijk, et al.Pageof 8