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Over ons Praktische zaken Waar vindt u ons dr. R.J. Lunsing

Publicaties

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

RICTOR variants are associated with neurodevelopmental disorders

Association between Lysine Reduction Therapies and Cognitive Outcomes in Patients with Pyridoxine-Dependent Epilepsy

Biallelic loss-of-function variants in RABGAP1 cause a novel neurodevelopmental syndrome

Eye movement disorders in inborn errors of metabolism: A quantitative analysis of 37 patients

Timing of therapy and neurodevelopmental outcomes in 18 families with pyridoxine-dependent epilepsy

Cognitive and neurological outcome of patients in the Dutch pyridoxine-dependent epilepsy (PDE-ALDH7A1) cohort, a cross- sectional study

Consensus guidelines for the diagnosis and management of pyridoxine-dependent epilepsy due to alpha-aminoadipic semialdehyde dehydrogenase deficiency

Homozygous UBA5 Variant Leads to Hypomyelination with Thalamic Involvement and Axonal Neuropathy

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study