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JIMD Reports|July 8, 2024
Riboflavin transporter deficiency in young adults unmasked by dietary changesBregje Jaeger, Mirjam Langeveld, Robert Brunkhorst, et al.
Heart (British Cardiac Society)|February 11, 2021
Influence of sex and phenotype on cardiac outcomes in patients with Fabry diseaseMohamed El Sayed, Alexander Hirsch, Matthijs Boekholdt, et al.
JIMD Reports|February 28, 2025
Treatment Beliefs Reflect Unmet Clinical Needs in Lysosomal Storage Diseases: An Opportunity for a Patient-Centered ApproachEleonore M Corazolla, Mirjam Langeveld, Marion M M G Brands, et al.
Journal of Inherited Metabolic Disease|December 2, 2025
Sexual Dysfunction and Its Relationship With Hypogonadism and Myelopathy in Male Patients With X-Linked AdrenoleukodystrophyStephanie I W van de Stadt, Aimy M A Wessel, Mirjam Langeveld, et al.
Molecular Genetics and Metabolism|June 8, 2025
Fabry disease - a risk factor for renal cell cancer? - case seriesSubadra Wanninayake, L van Dussen, Antonio Ochoa-Ferraro, et al.
JIMD Reports|January 14, 2022
Functional electrical stimulation to aid walking in patients with adrenomyeloneuropathy: A case study and observational seriesWilliam Goodison, Fred Baron, Coralie Seary, et al.
Neonatology|September 19, 2022
Mind the B2: Life-Threatening Neonatal Complications of a Strict Vegan Diet during PregnancyBregje Jaeger, Willemijn Corpeleijn, Monique Dijsselhof, et al.
JIMD Reports|September 14, 2022
Recurrent metabolic alkalosis following ketone body treatment of adult mitochondrial trifunctional protein deficiency: A case reportNina N Stolwijk, Mirjam Langeveld, Bart A W Jacobs, et al.
Practical Neurology|December 14, 2020
Ammonia: what adult neurologists need to knowRick Meijer, Umesh Vivekananda, Simona Balestrini, et al.
Orphanet Journal of Rare Diseases|June 2, 2023
A qualitative study on the perspectives of mothers who had been diagnosed with primary carnitine deficiency through newborn screening of their childLieke M van den Heuvel, Adriana Kater-Kuipers, Tessa van Dijk, et al.
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