Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease

Authors: María José de Castro, Simon A Jones, Javier de las Heras, Paula Sánchez-Pintos, María L Couce, Cristóbal Colón, Pablo Crujeiras, María Unceta, Heather Church, Kathryn Brammeier, Wu Hoi Yee, James Cooper, Laura López de Frutos, Irene Serrano-Gonzalo, María José Camba, Fiona J. White, Victoria Holmes, Arunabha Ghosh

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-9 (2024)

Subject Terms: Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/b5c38565cdd44d16807759d4ee950516

Exploring the Cost-Effectiveness of Newborn Screening for Metachromatic Leukodystrophy (MLD) in the UK

Authors: Karen Bean, Simon A. Jones, Anupam Chakrapani, Suresh Vijay, Teresa Wu, Heather Church, Charlotte Chanson, Andrew Olaye, Beckley Miller, Ivar Jensen, Francis Pang

Source: International Journal of Neonatal Screening, Vol 10, Iss 3, p 45 (2024)

Subject Terms: cost-effectiveness, cost utility analysis, metachromatic leukodystrophy, MLD, newborn screening, NHS, Pediatrics, RJ1-570

File Description: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/3/45; https://doaj.org/toc/2409-515X

Access URL: https://doaj.org/article/5bf65783a81c4dc888f04b8d8b385d27

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

Authors: Jane E. Potter, Gemma Petts, Arunabha Ghosh, Fiona J. White, Jane L. Kinsella, Stephen Hughes, Jane Roberts, Adam Hodgkinson, Kathryn Brammeier, Heather Church, Christine Merrigan, Joanne Hughes, Pamela Evans, Helen Campbell, Denise Bonney, William G. Newman, Brian W. Bigger, Alexander Broomfield, Simon A. Jones, Robert F. Wynn

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-14 (2021)

Subject Terms: Enzyme replacement therapy (ERT), Dietary substrate reduction (DSR), Gene therapy, Hematopoietic stem cell transplant (HCT), Hemophagocytic lymphohistiocytosis (HLH), Lysosomal storage disorders (LSD), Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/d3be9f8f7dcb489b904a47d7c2643970

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An attenuated form of Morquio disease in Northern Ireland

Authors: Stewart, Fiona, Simon, Jones, Karen, Tylee, heather, church

Source: In Molecular Genetics and Metabolism February 2013 108(2):S88-S88

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