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Journal of Inherited Metabolic Disease|August 27, 2013
Reduced response of Cystathionine Beta-Synthase (CBS) to S-Adenosylmethionine (SAM): Identification and functional analysis of CBS gene mutations in Homocystinuria patientsMarisa I S Mendes, Henrique G Colaço, Desirée E C Smith, et al.JHEP Reports : Innovation in Hepatology|July 11, 2022
High childhood serum triglyceride concentrations associate with hepatocellular adenoma development in patients with glycogen storage disease type IaMartijn P D Haring, Fabian Peeks, Maaike H Oosterveer, et al.Orphanet Journal of Rare Diseases|July 12, 2013
Tetrahydrobiopterin responsiveness in phenylketonuria: prediction with the 48-hour loading test and genotypeKaren Anjema, Margreet van Rijn, Floris C Hofstede, et al.Transfusion|September 12, 2015
Erythrocytapheresis versus phlebotomy in the maintenance treatment of HFE hemochromatosis patients: results from a randomized crossover trialEva Rombout-Sestrienkova, Bjorn Winkens, Brigitte A B Essers, et al.Journal of Inherited Metabolic Disease|September 18, 2022
Outcome of infantile nephropathic cystinosis depends on early intervention, not genotype: A multicenter sibling cohort studyKoenraad Veys, Ward Zadora, Katharina Hohenfellner, et al.Journal of Inherited Metabolic Disease|March 1, 2019
Movement disorders and nonmotor neuropsychological symptoms in children and adults with classical galactosemiaAnouk Kuiper, Stephanie Grünewald, Elaine Murphy, et al.Journal of Inherited Metabolic Disease|February 6, 2025
The Frequencies of Different Inborn Errors of Metabolism in Adult Metabolic Centres: 10 Years Later, Another Report From the SSIEM Adult Metabolic Physicians GroupMichel Tchan, Anna Lehman, Laura van Dussen, et al.Brain : a Journal of Neurology|November 6, 2024
Phase 2b program with sonlicromanol in patients with mitochondrial disease due to m.3243A>G mutationJan Smeitink, Just van Es, Brigitte Bosman, et al.Journal of Inherited Metabolic Disease|September 2, 2022
Multi-omics in classical galactosemia: Evidence for the involvement of multiple metabolic pathwaysMerel E Hermans, Michel van Weeghel, Frédéric M Vaz, et al.Journal of Inherited Metabolic Disease|September 8, 2021
Human and animal fertility studies in cystinosis reveal signs of obstructive azoospermia, an altered blood-testis barrier and a subtherapeutic effect of cysteamine in testisAhmed Reda, Koenraad Veys, Prashant Kadam, et al.Pageof 12