Skip to ContentSkip to Navigation
University of Groningenfounded in 1614  -  top 100 university
About us Practical matters How to find us dr. R.J. Lunsing
University Medical Center Groningen

dr. R.J. Lunsing

Child neurologist
No picture available
E-mail:
r.j.lunsing umcg.nl

Publications

Development of the Dutch translational knowledge agenda for inherited metabolic diseases

Mapping variants in thyroid hormone transporter MCT8 to disease severity by genomic, phenotypic, functional, structural and deep learning integration

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