Tom J. De Koning
Groningen, GR, Netherlands
Last Updated: 09/26/2026
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Found 101 publications
The Simplified Diet for PKU: Practices of Swedish Metabolic Dietitians.
Journal: Nutrients
Published: May 08, 2026
Corrigendum to "Genetics of upper limb tremor in clinical practice: a systematic literature review" [Parkinsonism and Related disorders volume "in press" (2025) PRD 107981].
Journal: Parkinsonism & related disorders
Published: September 27, 2025
The Genotypic and Phenotypic Spectrum of GOSR2 Mutations: Clinical and Pathophysiological Insights.
Journal: Journal of inherited metabolic disease
Published: June 29, 2025
Metachromatic Leukodystrophy: New Therapy Advancements and Emerging Research Directions.
Journal: Neurology
Published: June 27, 2025
Genetics of upper limb tremor in clinical practice: a systematic literature review.
Journal: Parkinsonism & related disorders
Published: April 29, 2025
Screening Tool Improves Recognition of Movement Disorders by Internists and Paediatricians in Patients With Inherited Metabolic Diseases.
Journal: Journal of inherited metabolic disease
Published: April 25, 2025
Key lessons from the first international treatment eligibility committee: the case of metachromatic leukodystrophy.
Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
Published: March 31, 2025
Eye movement disorders in genetic dystonia syndromes: A literature overview.
Journal: Parkinsonism & related disorders
Published: November 27, 2024
White matter abnormalities in amino acid disorders and organic acidurias.
Journal: Handbook of clinical neurology
Published: September 25, 2024
The natural history of progressive myoclonus ataxia.
Journal: Neurobiology of disease
Published: March 02, 2024
Mitigating the impact of study-start delays in clinical trials for rare disorders: insights and lessons from a PKAN trial.
Journal: Orphanet journal of rare diseases
Published: February 10, 2024
Conventional and novel anti-seizure medications reveal a particular role for GABAA in a North Sea progressive myoclonus Epilepsy Drosophila model.
Journal: Epilepsy research
Published: December 18, 2023
Last Updated: 09/26/2026