Rory Tinker

18PUBLICATIONS
30CO-AUTHORS
Cancer diagnosisMedical biochemistry - carbohydratesNeonatologyMedical molecular engineering of nucleic acids and proteinsMedical biochemistry - lipids
Featured researcher

Get your video featured.

JoVEPublish with JoVE
Journal

Publications (18)

|Sep 26, 2026
A Systematic Review of Positron Emission Tomography (PET) in X-Linked Adrenoleukodystrophy: Beyond Structural MRI.

|Aug 04, 2026
Timely Diagnosis of Cobalamin C Disease via Rapid Genome Sequencing in a Neonate With Severe Prenatally Detected Biventricular Dysfunction.

|Jun 26, 2026
Positron Emission Tomography (PET) in Phenylketonuria: A Systematic Review of Brain Metabolism Beyond Phenylalanine.

|Jun 12, 2026
DHDDS-related juvenile parkinsonism is caused by impaired lipid metabolism, glycosylation, and mitochondrial dysfunction, which can be rescued by NAD⁺ treatment.

|Apr 27, 2026
Diagnostic Odyssey of Atypical Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD) Explained by Three Allelic Products From Two Pathogenic Variants.

|Mar 28, 2026
Expanded Clinical Spectrum of Autosomal-Dominant STT3A-CDG.

Hamdan Al-Shahrani, Evelin Szabó, Caroline Staccone

Pageof 3

Frequent Collaborators

9 joint publications

Yutaka Furuta

3 joint publications

Thomas Cassini

3 joint publications

John A Phillips

2 joint publications

Hong Li