Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies

por Stepien, Karolina M., Cufflin, Neve, Donald, Aimee, Jones, Simon, Church, Heather, Hargreaves, Iain P.
Publicado 2022

Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe

por Jones, Simon A., Cheillan, David, Chakrapani, Anupam, Church, Heather J., Heales, Simon, Wu, Teresa H. Y., Morton, Georgina, Roberts, Patricia, Sluys, Erica F., Burlina, Alberto
Publicado 2022

A New Approach to Objectively Evaluate Inherited Metabolic Diseases for Inclusion on Newborn Screening Programmes

por Burlina, Alberto, Jones, Simon A., Chakrapani, Anupam, Church, Heather J., Heales, Simon, Wu, Teresa H. Y., Morton, Georgina, Roberts, Patricia, Sluys, Erica F., Cheillan, David
Publicado 2022

Reply to Maase et al. Comment on “Jones et al. Application of a Novel Algorithm for Expanding Newborn Screening for Inherited Metabolic Disorders across Europe. Int. J. Neonatal Sc...

por Jones, Simon A., Cheillan, David, Chakrapani, Anupam, Church, Heather J., Heales, Simon, Wu, Teresa H. Y., Morton, Georgina, Roberts, Patricia, Sluys, Erica F., Burlina, Alberto
Publicado 2023

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

por Langford-Smith, Kia Jane, Mercer, Jean, Petty, June, Tylee, Karen, Church, Heather, Roberts, Jane, Moss, Gill, Jones, Simon, Wynn, Rob, Wraith, J. Ed, Bigger, Brian W.
Publicado 2010

A deletion of IDUA exon 10 in a family of Golden Retriever dogs with an attenuated form of mucopolysaccharidosis type I

por Faller, Kiterie M. E., Ridyard, Alison E., Gutierrez‐Quintana, Rodrigo, Rupp, Angie, Kun‐Rodrigues, Celia, Orme, Tatiana, Tylee, Karen L., Church, Heather J., Guerreiro, Rita, Bras, Jose
Publicado 2020

The lysosomal disease caused by mutant VPS33A

por Pavlova, Elena V, Shatunov, Aleksey, Wartosch, Lena, Moskvina, Alena I, Nikolaeva, Lena E, Bright, Nicholas A, Tylee, Karen L, Church, Heather J, Ballabio, Andrea, Luzio, J Paul, Cox, Timothy M
Publicado 2019

Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A

por Pavlova, Elena V., Lev, Dorit, Michelson, Marina, Yosovich, Keren, Michaeli, Hila Gur, Bright, Nicholas A., Manna, Paul T., Dickson, Veronica Kane, Tylee, Karen L., Church, Heather J., Luzio, J. Paul, Cox, Timothy M.
Publicado 2022

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

por Pal, Abhijit Ricky, Langereis, Eveline J, Saif, Muhammad A, Mercer, Jean, Church, Heather J, Tylee, Karen L, Wynn, Robert F, Wijburg, Frits A, Jones, Simon A, Bruce, Iain A, Bigger, Brian W
Publicado 2015

Long-term outcomes in two adult siblings with Fucosidosis – Diagnostic odyssey and clinical manifestations

por Puente-Ruiz, Nuria, Ellis, Ian, Bregu, Marsel, Chen, Cliff, Church, Heather J., Tylee, Karen L., Gladston, Shalini, Hackett, Richard, Oldham, Andrew, Virk, Surinder, Hendriksz, Christian, Morris, Andrew A.M., Jones, Simon A., Stepien, Karolina M.
Publicado 2023

A decade of excellent transplant survival in children with inherited metabolic diseases: A report from a single metabolic transplant centre in Europe

por Lum, Su Han, Will, Andrew, Church, Heather J, Mercer, Jean, Tylee, Karen L, Poulton, Kay, Odgen, Wendy, Lee, Helena, Logan, Alison, Coussons, Mary, Khalid, Tasneem, Bonney, Denise, Rust, Stewart, Hiwarkar, Prashant, Jones, Simon A, Wynn, Robert F
Publicado 2019

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

por Potter, Jane E., Petts, Gemma, Ghosh, Arunabha, White, Fiona J., Kinsella, Jane L., Hughes, Stephen, Roberts, Jane, Hodgkinson, Adam, Brammeier, Kathryn, Church, Heather, Merrigan, Christine, Hughes, Joanne, Evans, Pamela, Campbell, Helen, Bonney, Denise, Newman, William G., Bigger, Brian W., Broomfield, Alexander, Jones, Simon A., Wynn, Robert F.
Publicado 2021

Diagnosing mucopolysaccharidosis IVA

por Wood, Timothy C., Harvey, Katie, Beck, Michael, Burin, Maira Graeff, Chien, Yin-Hsiu, Church, Heather J., D’Almeida, Vânia, van Diggelen, Otto P., Fietz, Michael, Giugliani, Roberto, Harmatz, Paul, Hawley, Sara M., Hwu, Wuh-Liang, Ketteridge, David, Lukacs, Zoltan, Miller, Nicole, Pasquali, Marzia, Schenone, Andrea, Thompson, Jerry N., Tylee, Karen, Yu, Chunli, Hendriksz, Christian J.
Publicado 2013