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Publications

A Screening Tool to Quickly Identify Movement Disorders in Patients with Inborn Errors of Metabolism

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

Measuring saccades in patients with Niemann-Pick type C: A comparison between video-oculography and a novel eye tracking test based on continuous psychophysics

Movement disorders and eye movement disorders in late-onset inborn errors of metabolism: an unexplored area

Case Report: “Niemann-Pick Disease Type C in a Catatonic Patient Treated With Electroconvulsive Therapy”

How to detect late-onset inborn errors of metabolism in patients with movement disorders - A modern diagnostic approach

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

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