Rory Tinker

17PUBLICATIONS
30CO-AUTHORS
Medical biochemistry - carbohydratesNeonatologyMedical molecular engineering of nucleic acids and proteinsMedical biochemistry - lipidsEpigenetics (incl. genome methylation and epigenomics)
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Publications (17)

|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

|Feb 04, 2026
Syndrome of the Month: Radioulnar Synostosis With Amegakaryocytic Thrombocytopenia Type 2.

Daniel R Schecter, Danielle Zamalin, V Peter Abdow

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Frequent Collaborators

8 joint publications

Yutaka Furuta

3 joint publications

Thomas Cassini

2 joint publications

Eva Morava

2 joint publications

Kimberly M Ezell