Richard Rodenburg

21PUBLICATIONS
84CO-AUTHORS
Clinical nutritionHaematological tumoursNeurology and neuromuscular diseasesMedical biochemistry - proteins and peptides (incl. medical proteomics)Medical biochemistry - lipids
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Publications (21)

|Oct 12, 2026
Tailored Amino Acid Treatment for Pediatric Patients With Mitochondrial Aminoacyl-tRNA Synthetase Deficiencies.

|Jul 13, 2024
Characterisation of an Adult Zebrafish Model for SDHB-Associated Phaeochromocytomas and Paragangliomas.

Jasmijn B Miltenburg, Marnix Gorissen, Inge van Outersterp

|May 25, 2024
Mutations in NSUN3, a Mitochondrial Methyl Transferase Gene, Cause Inherited Optic Neuropathy.

Cansu de Muijnck, Jacoline B Ten Brink, Hugoline G de Haan

|May 13, 2023
In Vitro Skeletal Muscle Model of PGM1 Deficiency Reveals Altered Energy Homeostasis.

Federica Conte, Angel Ashikov, Rachel Mijdam

|Dec 24, 2021
Characterization of a Novel Splicing Variant in Acylglycerol Kinase (AGK) Associated with Fatal Sengers Syndrome.

Sofia Barbosa-Gouveia, Maria E Vázquez-Mosquera, Emiliano Gonzalez-Vioque

|Jun 02, 2021
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis.

Elke de Boer, Charlotte W Ockeloen, Leslie Matalonga

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Frequent Collaborators

4 joint publications

Christian Gilissen

3 joint publications

María-Luz Couce

3 joint publications

Antonia Kappen

2 joint publications

Rita Horvath