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Publicaties

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

Melatonin in neuropaediatric MRI: a retrospective study of efficacy in a general hospital setting

Paediatric motor phenotypes in early-onset ataxia, developmental coordination disorder, and central hypotonia

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