James E. Davison
Great Ormond Street Hospital Biomedical Research Centre
London, ENG, United Kingdom
London, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 49 publications
P10 Treatment-refractory psoriasiform dermatitis resulting from a rare genetic alteration in MSMO1 with marked improvement with combined cholesterol and statin use.
Journal: The British journal of dermatology
Published: December 18, 2025
Sex-based antibody subclass maturation drives direct enzymatic inhibition in fabry disease patients receiving enzyme replacement therapy.
Journal: Frontiers in molecular biosciences
Published: October 16, 2025
Diagnosis, management and monitoring of patients with Pompe disease in the UK.
Journal: BMJ neurology open
Published: July 29, 2025
Cytosolic Phosphoenoylpyruvate Carboxykinase Deficiency: Clinical, Biochemical, and Genetic Features of Five Non-Finnish Patients.
Journal: American journal of medical genetics. Part A
Published: May 15, 2025
Corrigendum to "Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials" [Molecular Genetics and Metabolism, 143 (2024) 108608].
Journal: Molecular genetics and metabolism
Published: January 09, 2025
Early investigation of sensorineural hearing loss enables diagnosis of rare metabolic diseases, such as mucopolysaccharidosis type III.
Journal: BMJ case reports
Published: January 04, 2025
Correction to: short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Journal: Orphanet journal of rare diseases
Published: August 30, 2024
COA5 has an essential role in the early stage of mitochondrial complex IV assembly.
Journal: Life science alliance
Published: August 23, 2024
The Mini-COMET Clinical Trial: Safety and Efficacy of Avalglucosidase Alfa after 97 Weeks of Treatment in Children with Infantile-Onset Pompe Disease Previously Treated with Alglucosidase Alfa.
Journal: The Journal of pediatrics
Published: July 05, 2024
Home infusion experience in patients with Pompe disease receiving avalglucosidase alfa during three clinical trials.
Journal: Molecular genetics and metabolism
Published: June 13, 2024
Short and long-term acceptability and efficacy of extended-release cornstarch in the hepatic glycogen storage diseases: results from the Glyde study.
Journal: Orphanet journal of rare diseases
Published: December 18, 2023
Last Updated: 09/26/2026