Justyna Spiewak
Great Ormond Street Institute Of Child Health
London, ENG WC1N1EH, United Kingdom
London, ENG WC1N1EH, United Kingdom
Last Updated: 09/26/2026
Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 10 publications
mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.
Journal: Science translational medicine
Published: January 10, 2024
New Perspectives in Dried Blood Spot Biomarkers for Lysosomal Storage Diseases.
Journal: International journal of molecular sciences
Published: May 01, 2023
Plasma proteomics identify biomarkers predicting Parkinson's disease up to 7 years before symptom onset.
Journal: Nature communications
Published: April 06, 2023
Operation Moonshot: rapid translation of a SARS-CoV-2 targeted peptide immunoaffinity liquid chromatography-tandem mass spectrometry test from research into routine clinical use.
Journal: Clinical chemistry and laboratory medicine
Published: October 05, 2022
Preclinical evaluation of FLT190, a liver-directed AAV gene therapy for Fabry disease.
Journal: Gene therapy
Published: May 04, 2022
Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
Journal: Developmental medicine and child neurology
Published: January 18, 2022
Global glycosphingolipid analysis in urine and plasma of female Fabry disease patients.
Journal: Biochimica et biophysica acta. Molecular basis of disease
Published: March 19, 2019
Rapid, proteomic urine assay for monitoring progressive organ disease in Fabry disease.
Journal: Journal of medical genetics
Published: January 22, 2019
Showing 1-10 of 10
Last Updated: 09/26/2026