Newborn screening for mucopolysaccharidoses: a pilot study of measurement of glycosaminoglycans by tandem mass spectrometry
2016 · Journal of Inherited Metabolic Disease · 69 citations
https://doi.org/10.1007/s10545-016-9981-6
H
Heather J. Church
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Heather J. Church is an academic researcher from Manchester University NHS Foundation Trust. The author has contributed to research in topics: Lysosomal Storage Disorders Research & Glycogen Storage Diseases and Myoclonus & Trypanosoma species research and implications. The author has an h-index of 22, co-authored 104 publications.
Papers by this author
worksBiomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy
2014 · Molecular Genetics and Metabolism · 58 citations
https://doi.org/10.1016/j.ymgme.2014.10.012
Glycosaminoglycan levels in dried blood spots of patients with mucopolysaccharidoses and mucolipidoses
2016 · Molecular Genetics and Metabolism · 47 citations
https://doi.org/10.1016/j.ymgme.2016.12.010
Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome
2015 · Orphanet Journal of Rare Diseases · 46 citations
https://doi.org/10.1186/s13023-015-0255-4
Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
2021 · Orphanet Journal of Rare Diseases · 41 citations
https://doi.org/10.1186/s13023-021-01849-7
Iron metabolism and hematological abnormalities in adult patients affected with mucopolysaccharidoses
2025 · Molecular Genetics and Metabolism Reports · 1 citations
https://doi.org/10.1016/j.ymgmr.2025.101243
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