Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre

por Yeo, Mildrid, Rehsi, Preeya, Dorman, Megan, Grunewald, Stephanie, Baruteau, Julien, Chakrapani, Anupam, Footitt, Emma, Prunty, Helen, McSweeney, Melanie
Publicado 2023

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders

por Yeo, Mildrid, Rehsi, Preeya, Dorman, Megan, Grunewald, Stephanie, Baruteau, Julien, Chakrapani, Anupam, Footitt, Emma, Prunty, Helen, McSweeney, Melanie
Publicado 2022

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice

por Pai, Yun Jin, Leung, Kit-Yi, Savery, Dawn, Hutchin, Tim, Prunty, Helen, Heales, Simon, Brosnan, Margaret E., Brosnan, John T., Copp, Andrew J., Greene, Nicholas D.E.
Publicado 2015

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non‐ketotic hyperglycinemia

por Leung, Kit‐Yi, De Castro, Sandra C. P., Santos, Chloe, Savery, Dawn, Prunty, Helen, Gold‐Diaz, Diana, Bennett, Stuart, Heales, Simon, Copp, Andrew J., Greene, Nicholas D. E.
Publicado 2020

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease

por Piras, Giuseppa, Montiel-Equihua, Claudia, Chan, Yee-Ka Agnes, Wantuch, Slawomir, Stuckey, Daniel, Burke, Derek, Prunty, Helen, Phadke, Rahul, Chambers, Darren, Partida-Gaytan, Armando, Leon-Rico, Diego, Panchal, Neelam, Whitmore, Kathryn, Calero, Miguel, Benedetti, Sara, Santilli, Giorgia, Thrasher, Adrian J., Gaspar, H. Bobby
Publicado 2020

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

por Baruteau, Julien, Perocheau, Dany P., Hanley, Joanna, Lorvellec, Maëlle, Rocha-Ferreira, Eridan, Karda, Rajvinder, Ng, Joanne, Suff, Natalie, Diaz, Juan Antinao, Rahim, Ahad A., Hughes, Michael P., Banushi, Blerida, Prunty, Helen, Hristova, Mariya, Ridout, Deborah A., Virasami, Alex, Heales, Simon, Howe, Stewen J., Buckley, Suzanne M. K., Mills, Philippa B., Gissen, Paul, Waddington, Simon N.
Publicado 2018

Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial

por Chiesa, Robert, Standing, Joseph F., Winter, Robert, Nademi, Zohreh, Chu, Jan, Pinner, Danielle, Kloprogge, Frank, McLellen, Susan, Amrolia, Persis J., Rao, Kanchan, Lucchini, Giovanna, Silva, Juliana, Ciocarlie, Oana, Lazareva, Arina, Gennery, Andrew R., Doncheva, Bilyana, Cant, Andrew J., Hambleton, Sophie, Flood, Terence, Rogerson, Elizabeth, Devine, Kirsty, Prunty, Helen, Heales, Simon, Veys, Paul, Slatter, Mary
Publicado 2019