Alexander A. Broomfield

Oxford Road
Manchester, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 37 publications

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease.

Journal: Neurology. Genetics

Published: October 31, 2025

Diagnosis, management and monitoring of patients with Pompe disease in the UK.

Diagnosis, management and monitoring of patients with Pompe disease in the UK.

Journal: BMJ neurology open

Published: July 29, 2025

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.

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

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Start, switch and stop (triple-S) criteria for enzyme replacement therapy of late-onset Pompe disease: European Pompe Consortium recommendation update 2024.

Journal: European journal of neurology

Published: December 04, 2023

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry.

Journal: Orphanet journal of rare diseases

Published: April 20, 2023

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy.

Journal: Orphanet journal of rare diseases

Published: January 31, 2023

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel.

Journal: Orphanet journal of rare diseases

Published: September 28, 2022

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Safety and efficacy of avalglucosidase alfa in individuals with infantile-onset Pompe disease enrolled in the phase 2, open-label Mini-COMET study: The 6-month primary analysis report.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 22, 2022

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

Journal: The New England journal of medicine

Published: November 10, 2021

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.

Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease.

Journal: Orphanet journal of rare diseases

Published: January 27, 2021

Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.

Pulmonary Manifestations of Endocrine and Metabolic Diseases in Children.

Journal: Pediatric clinics of North America

Published: November 24, 2020

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

The evolution of pulmonary function in childhood onset Mucopolysaccharidosis type I.

Journal: Molecular genetics and metabolism

Published: April 13, 2020

Showing 1-12 of 37

Last Updated: 09/26/2026