Timothy M. Cox
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 86 publications
Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.
Journal: Orphanet journal of rare diseases
Published: November 18, 2025
Treatment preferences of adult patients with hereditary fructose intolerance: A discrete choice experiment.
Journal: Molecular genetics and metabolism
Published: April 22, 2025
Safety and efficacy of pharmacological inhibition of ketohexokinase in hereditary fructose intolerance.
Journal: The Journal of clinical investigation
Published: February 11, 2025
Venglustat in GM2 gangliosidoses and related disorders: Results of the AMETHIST randomized controlled and basket trials.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: December 23, 2024
Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.
Journal: Orphanet journal of rare diseases
Published: November 18, 2024
Gaucher disease protects against tuberculosis.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: February 06, 2023
The Two Substrate Reduction Therapies for Type 1 Gaucher Disease Are Not Equivalent. Comment on Hughes et al. Switching between Enzyme Replacement Therapies and Substrate Reduction Therapies in Patients with Gaucher Disease: Data from the Gaucher Outcome Survey (GOS). J. Clin. Med. 2022, 11, 5158.
Journal: Journal of clinical medicine
Published: January 20, 2023
Radiographic Cortical Thickness Index Predicts Fragility Fracture in Gaucher Disease.
Journal: Radiology
Published: December 20, 2022
Upregulation of non-canonical and canonical inflammasome genes associates with pathological features in Krabbe disease and related disorders.
Journal: Human molecular genetics
Published: October 19, 2022
Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A.
Journal: Human mutation
Published: August 23, 2022
Last Updated: 09/26/2026