2024
Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3
El-Beshlawy A, Tylki-Szymanska A, Belmatoug N, Mistry P. Plain language summary of a study looking at the long-term benefits of enzyme replacement therapy in children and teenagers with Gaucher disease type 3. Future Rare Diseases 2024, 4: frd52. DOI: 10.2217/frd-2023-0015.Peer-Reviewed Original ResearchBeta-glucosidase enzymePlain Language SummaryGaucher diseaseSlow growthBeta-glucosidaseEnzyme replacement therapyLanguage SummaryQuality of life of peopleLife-prolonging treatmentInternational Collaborative Gaucher GroupQuality of lifeGenetic conditionsEnzymeType 3Year of treatmentImproved most symptomsLong-term symptoms
2010
Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease
Schilsky M, Mistry P. Inherited diseases of copper metabolism: Wilson’s disease and Menkes’ disease. 2010, 1688-1693. DOI: 10.1093/med/9780199204854.003.120702.Peer-Reviewed Original Research