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Haematologica|September 20, 2015
Second international round robin for the quantification of serum non-transferrin-bound iron and labile plasma iron in patients with iron-overload disordersLouise de Swart, Jan C M Hendriks, Lisa N van der Vorm, et al.Neuropsychology|March 21, 2017
Cognitive profile and mental health in adult phenylketonuria: A PKU-COBESO studyRianne Jahja, Stephan C J Huijbregts, Leo M J de Sonneville, et al.Human Mutation|April 14, 2025
Genotype/Phenotype Relationship: Lessons From 137 Patients With PMM2-CDGSander Pajusalu, Mari-Anne Vals, Mercedes Serrano, et al.Molecular Genetics and Metabolism|December 27, 2014
Is BRIEF a useful instrument in day to day care of patients with phenylketonuria?Geertje B Liemburg, Rianne Jahja, Francjan J van Spronsen, et al.Neurology|August 25, 2022
Association Between Lysine Reduction Therapies and Cognitive Outcomes in Patients With Pyridoxine-Dependent EpilepsyCurtis R Coughlin, Laura A Tseng, Levinus A Bok, et al.Journal of Inherited Metabolic Disease|February 18, 2018
Next-generation metabolic screening: targeted and untargeted metabolomics for the diagnosis of inborn errors of metabolism in individual patientsKarlien L M Coene, Leo A J Kluijtmans, Ed van der Heeft, et al.JIMD Reports|March 17, 2021
Monitoring phenylalanine concentrations in the follow-up of phenylketonuria patients: An inventory of pre-analytical and analytical variationKarlien L M Coene, Corrie Timmer, Susan M I Goorden, et al.Journal of Inherited Metabolic Disease|April 23, 2022
Influence of early identification and therapy on long-term outcomes in early-onset MTHFR deficiencyMathilde Yverneau, Stéphanie Leroux, Apolline Imbard, et al.American Journal of Hematology|September 20, 2016
Iron refractory iron deficiency anemia: a heterogeneous disease that is not always iron refractoryAlbertine E Donker, Charlotte C M Schaap, Vera M J Novotny, et al.Journal of Inherited Metabolic Disease|November 10, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic DiseasesEllen M Hulshof, Hugo P Lantinga, Gonnie Alkemade, et al.Pageof 12