Reena Sharma
Stott Lane
Salford, ENG, United Kingdom
Salford, ENG, United Kingdom
Last Updated: 09/26/2026
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Found 48 publications
Natural history of hearing loss in adults with mucopolysaccharidoses across phenotype and genotype.
Journal: Molecular genetics and metabolism
Published: February 21, 2026
Author Correction: PHKA1-associated phosphorylase kinase deficiency: a monogenic disorder of exercise intolerance and myalgia.
Journal: NPJ genomic medicine
Published: December 30, 2025
Treatment goals for adults with early treated PKU should be determined by evidence-based shared decision making between patients and their medical team.
Journal: Orphanet journal of rare diseases
Published: November 28, 2025
Effectiveness and tolerability of migalastat in adult Fabry disease: A single regional centre experience.
Journal: Molecular genetics and metabolism reports
Published: November 01, 2025
Clinical Characteristics of Arginase 1 Deficiency: Natural History Insights From International Clinical Trials.
Journal: Journal of inherited metabolic disease
Published: September 03, 2025
Challenges in diagnosing hawkinsinuria in adulthood: 2 cases from a single family.
Journal: BMJ case reports
Published: August 11, 2025
Diagnosis, management and monitoring of patients with Pompe disease in the UK.
Journal: BMJ neurology open
Published: July 29, 2025
Real-world clinical outcomes in adult patients with Fabry disease: A 20-year retrospective observational cohort study from a single centre.
Journal: Molecular genetics and metabolism reports
Published: March 31, 2025
Long-term efficacy and safety of arimoclomol in Niemann-Pick disease type C: Final results of the phase 2/3 NPC-002 48-month open-label extension trial.
Journal: Molecular genetics and metabolism
Published: March 17, 2025
Last Updated: 09/26/2026