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A detailed description of the phenotypic spectrum of North Sea Progressive Myoclonus Epilepsy in a large cohort of seventeen patients

A Phenomenology-Based Approach to Inborn Errors of Metabolism with Myoclonus.

Inborn Errors of Metabolism in Adults: Two Patients with Movement Disorders Caused by Glutaric Aciduria Type 1

A detailed delineation of the clinical phenotype, natural history and quality of life in patients with North Sea Progressive Myoclonus Epilepsy

Eye movement disorders and neurological symptoms in late-onset inborn errors of metabolism

A patient with mild traumatic brain injury and hyponatremia

Ataxia, dystonia and myoclonus in adult patients with Niemann-Pick type C

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