Thomas Opladen

19PUBLICATIONS
67CO-AUTHORS
Medical biochemistry - proteins and peptides (incl. medical proteomics)Metabolic medicineMajor global burdens of diseaseEpigenetics (incl. genome methylation and epigenomics)Neurology and neuromuscular diseases
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (19)

|Apr 06, 2026
A Novel Multimodal LC-MS/MS Panel for the Comprehensive Diagnosis of Neurometabolic Disorders in CSF.

Stine Christ, Julia Rossmann, Sylvia Richter

|Nov 11, 2025
Consensus Guideline for the Diagnosis and Treatment of Tyrosine Hydroxylase (TH) Deficiency.

Mariya Sigatullina Bondarenko, Oya Kuseyri Hübschmann, Jan Kulhánek

|Oct 24, 2025
Trial Readiness: Understanding the Natural History of Rare Diseases.

Thomas Opladen, Ulrike Mütze, Florian Gleich

|Jul 01, 2025
The Spectrum of Neurologic Phenotypes Associated With NUS1 Pathogenic Variants: A Comprehensive Case Series.

Sarah M Brooker, Maria Novelli, Robert Coukos

|Mar 15, 2025
Patients with Allan-Herndon-Dudley Syndrome (MCT8 Deficiency) Display Symptoms of Parkinsonism in Childhood and Respond to Levodopa/Carbidopa Treatment.

Nina-Maria Wilpert, Angela L Hewitt, Roser Pons

Pageof 4