Mortality in patients with Sanfilippo syndrome

by Christine Lavery, Chris J. Hendriksz, Simon A. Jones
Published 2017-10-01

Home infusion with Elosulfase alpha (VimizimR) in a UK Paediatric setting

by Niamh Finnigan, Jane Roberts, Jean Mercer, Simon A. Jones
Published 2018-03-01

Hematopoietic Stem Cell Transplantation in Inborn Errors of Metabolism

by Emily Y. Tan, Jaap Jan Boelens, Simon A. Jones, Robert F. Wynn
Published 2019-10-01

Substrate accumulation and extracellular matrix remodelling promote persistent upper airway disease in mucopolysaccharidosis patients on enzyme replacement therapy.

by Abhijit Ricky Pal, Jean Mercer, Simon A Jones, Iain A Bruce, Brian W Bigger
Published 2018-01-01

Correction to: Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-la...

by Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Published 2021-03-01

Long-term survival with sebelipase alfa enzyme replacement therapy in infants with rapidly progressive lysosomal acid lipase deficiency: final results from 2 open-label studies

by Suresh Vijay, Anais Brassier, Arunabha Ghosh, Simona Fecarotta, Florian Abel, Sachin Marulkar, Simon A. Jones
Published 2021-01-01

Differential dependencies of monocytes and neutrophils on dectin-1, dectin-2 and complement for the recognition of fungal particles in inflammation.

by Jacqueline U McDonald, Marcela Rosas, Gordon D Brown, Simon A Jones, Philip R Taylor
Published 2012-01-01

Validating the Health Literacy Promotion Practices Assessment Instrument

by Allison P. Squires, H. Shonna Yin, Simon A. Jones, Sherry A. Greenberg, Ronnie Moore, Tara A. Cortes
Published 2017-12-01

Changes in PCSK 9 and apolipoprotein B100 in Niemann–Pick disease after enzyme replacement therapy with olipudase alfa

by Bethanie Garside, Jan Hoong Ho, See Kwok, Yifen Liu, Shaishav Dhage, Rachelle Donn, Zohaib Iqbal, Simon A. Jones, Handrean Soran
Published 2021-02-01

Strategies for the Induction of Immune Tolerance to Enzyme Replacement Therapy in Mucopolysaccharidosis Type I

by Arunabha Ghosh, Aiyin Liao, Claire O’Leary, Jean Mercer, Karen Tylee, Anu Goenka, Rebecca Holley, Simon A. Jones, Brian W. Bigger
Published 2019-06-01

Female mucopolysaccharidosis IIIA mice exhibit hyperactivity and a reduced sense of danger in the open field test.

by Alex Langford-Smith, Kia J Langford-Smith, Simon A Jones, Robert F Wynn, J E Wraith, Fiona L Wilkinson, Brian W Bigger
Published 2011-01-01

Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

by Aimee Donald, Chong Y. Tan, Anupam Chakrapani, Derralyn A. Hughes, Reena Sharma, Duncan Cole, Stanislav Bardins, Martin Gorges, Simon A. Jones, Erich Schneider
Published 2020-12-01

Interleukin-6 is crucial for recall of influenza-specific memory CD4 T cells.

by Maria Paula Longhi, Kate Wright, Sarah N Lauder, Mari A Nowell, Gareth W Jones, Andrew J Godkin, Simon A Jones, Awen M Gallimore
Published 2008-02-01

Signal one and two blockade are both critical for non-myeloablative murine HSCT across a major histocompatibility complex barrier.

by Kia J Langford-Smith, Zara Sandiford, Alex Langford-Smith, Fiona L Wilkinson, Simon A Jones, J Ed Wraith, Robert F Wynn, Brian W Bigger
Published 2013-01-01

Myeloid 12/15-LOX regulates B cell numbers and innate immune antibody levels in vivo [version 1; referees: 2 approved, 1 approved with reservations]

by Sarah N. Lauder, Victoria J Tyrrell, Keith Allen-Redpath, Maceler Aldrovandi, David Gray, Peter Collins, Simon A Jones, Philip R Taylor, Valerie O'Donnell
Published 2017-01-01

Long-Term Galsulfase Treatment Associated With Improved Survival of Patients With Mucopolysaccharidosis VI (Maroteaux-Lamy Syndrome)

by Adrian Quartel MD, Paul R. Harmatz MD, Christina Lampe MD, Nathalie Guffon MD, David Ketteridge MD, Elisa Leão-Teles MD, Simon A. Jones MD, Roberto Giugliani MD, PhD
Published 2018-01-01

Recommendations on clinical trial design for treatment of Mucopolysaccharidosis Type III

by Arunabha Ghosh, Elsa Shapiro, Stewart Rust, Kathleen Delaney, Samantha Parker, Adam J Shaywitz, Adelaida Morte, Gillian Bubb, Maureen Cleary, Tien Bo, Christine Lavery, Brian W Bigger, Simon A Jones
Published 2017-06-01

Identification of unusual oxysterols and bile acids with 7-oxo or 3β,5α,6β-trihydroxy functions in human plasma by charge-tagging mass spectrometry with multistage fragmentation[S]...

by William J. Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J. Crick, Thomas Hearn, Alison Dickson, Brian W. Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A. Jones, Yuqin Wang
Published 2018-01-01

Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials

by Mario Cortina-Borja, Danielle te Vruchte, Eugen Mengel, Yasmin Amraoui, Jackie Imrie, Simon A. Jones, Christine i Dali, Paul Fineran, Thomas Kirkegaard, Heiko Runz, Robin Lachmann, Tatiana Bremova-Ertl, Michael Strupp, Frances M. Platt
Published 2018-08-01

Obstructive Sleep Apnea in MPS

by Abhijit Ricky Pal MBBChir, MA, MD, FRCS(ORL-HNS), Nailah Brown BSc, MPhil, Simon A. Jones MB ChB, MRCPCH, Brian W. Bigger PhD, Iain A. Bruce MB ChB, MD, FRCS(ORL-HNS)
Published 2015-11-01