The diagnostic journey of patients with mucopolysaccharidosis I: A real-world survey of patient and physician experiences

by Stefano Bruni, Christine Lavery, Alexander Broomfield
Published 2016-09-01

Transition to Adult Care in Children on Long-Term Ventilation

by Alessandro Onofri, Alexander Broomfield, Hui-leng Tan
Published 2020-09-01

Improvement in functional gait parameters following corrective thoracolumbar surgery in children affected by Mucopolysaccharidosis 1 (Hurler syndrome)

by Rajkumar Sundarapandian, Simon Jones, Alexander Broomfield, Pauline Hensman, Neil Oxborrow
Published 2020-06-01

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

by Karolina M. Stepien, Alexander Broomfield, Duncan Cole, Patrick B. Deegan, Stuart Forshaw-Hulme, Derralynn Hughes, Ana Jovanovic, Liz Morris, Alison Muir, Uma Ramaswami
Published 2023-07-01

P029: Early treatment with alglucosidase alfa is associated with improved survival in patients with infantile-onset Pompe disease: Data from Pompe Registry

by Priya Kishnani, David Stockton, Andreas Hahn, Juan Llerena, Alexander Broomfield, Julie Batista, Meredith Foster, Kathryn Wilson, Susan Sparks, Hannerieke van den Hout, Yin-Hsiu Chien
Published 2024-01-01

Clinical, biochemical and molecular analysis in a cohort of individuals with gyrate atrophy

by Eleanor Palmer, Karolina M. Stepien, Christopher Campbell, Stephanie Barton, Christos Iosifidis, Arunabha Ghosh, Alexander Broomfield, Alison Woodall, Gisela Wilcox, Panagiotis I. Sergouniotis, Graeme C. Black
Published 2023-09-01

Higher dose alglucosidase alfa is associated with improved overall survival in infantile-onset Pompe disease (IOPD): data from the Pompe Registry

by Priya S. Kishnani, David Kronn, Shugo Suwazono, Alexander Broomfield, Juan Llerena, Zuhair Nasser Al-Hassnan, Julie L. Batista, Kathryn M. Wilson, Magali Periquet, Nadia Daba, Andreas Hahn, Yin-Hsiu Chien
Published 2023-12-01

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

by 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
Published 2021-05-01