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Journal of Inherited Metabolic Disease|July 3, 2025
Screening for Life: Perspectives From Adult Metabolic Specialists on Newborn Screening for Inherited Metabolic DiseasesMirjam Langeveld, Sandra Sirrs, Daphne H Schoenmakers, et al.Frontiers in Pediatrics|October 25, 2021
Expanding Neonatal Bloodspot Screening: A Multi-Stakeholder PerspectiveTessa van Dijk, Adriana Kater, Marleen Jansen, et al.Genes|March 28, 2025
Inherited Dyslipidemic Splenomegaly: A Genetic Macrophage Storage Disorder Caused by Disruptive Apolipoprotein E (<i>APOE</i>) VariantsElise A Ferreira, Machteld M Oud, Saskia N van der Crabben, et al.Journal of Inherited Metabolic Disease|June 9, 2020
Cognitive functioning and depressive symptoms in Fabry disease: A follow-up studySimon Körver, Gert J Geurtsen, Carla E M Hollak, et al.The Journal of Clinical Endocrinology and Metabolism|December 20, 2007
Type I Gaucher disease, a glycosphingolipid storage disorder, is associated with insulin resistanceMirjam Langeveld, Karen J M Ghauharali, Hans P Sauerwein, et al.Parkinsonism & Related Disorders|December 26, 2016
New insights in the neurological phenotype of aceruloplasminemia in Caucasian patientsLena H P Vroegindeweij, Janneke G Langendonk, Mirjam Langeveld, et al.Journal of Inherited Metabolic Disease|October 6, 2017
Isolated aortic root dilation in homocystinuriaMassimiliano Lorenzini, Nishan Guha, James E Davison, et al.Orphanet Journal of Rare Diseases|June 3, 2026
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical teamMirjam Langeveld, Sandra Sirrs, Robin Lachman, et al.Heart (British Cardiac Society)|February 7, 2015
Clinical and genetic predictors of major cardiac events in patients with Anderson-Fabry DiseaseVimal Patel, Constantinos O'Mahony, Derralynn Hughes, et al.Scientific Reports|January 19, 2019
Predictors of objective cognitive impairment and subjective cognitive complaints in patients with Fabry diseaseSimon Körver, Gert J Geurtsen, Carla E M Hollak, et al.Pageof 13