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Christine Egerton

Improving newborn screening test performance for metachromatic leukodystrophy: Recommendation from a pre-pilot study that identified a late-infantile case for treatment
2024 · Teresa H.Y. WU, Heather A. Brown, et al. · Molecular Genetics and Metabolism · 21
The incidence of mucopolysaccharidoses and related disorders in the Turkish population: A 3 year study
2013 · Heather Church, June Petty, et al. · Molecular Genetics and Metabolism · 4
Sustained improvement of clinical CNS and somatic features of Gaucher disease type 3 after haematopoietic stem cell (HSC) gene therapy: A first-in-world report
2023 · Aimee Donald, Jane Potter, et al. · Molecular Genetics and Metabolism · 1
How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency
2024 · Heather J. Church, Kathryn L. Brammeier, et al. · Molecular Genetics and Metabolism
How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency
2018 · Heather J. Church, Kathryn L. Brammeier, et al. · Molecular Genetics and Metabolism
Technical difficulties in the diagnosis of Krabbe leucodystrophy by enzyme analysis
2016 · Tim Hutchin, Fionnuala Terry, et al. · Molecular Genetics and Metabolism
Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six years
2016 · Karen L. Tylee, Stephanie Agoreyo, et al. · Molecular Genetics and Metabolism
Prediction of CRIM status in Pompe disease using cultured chorionic villi
2015 · Heather J. Church, Christine Egerton, et al. · Molecular Genetics and Metabolism
Abnormal filipin staining and phenotypic overlap between acid sphingomyelinase deficiency and Niemann-Pick C disease
2014 · Heather J. Church, Christine Egerton, et al. · Molecular Genetics and Metabolism
Works count: 9
Citation count: 26
H-index: 2
I10-index: 1
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