The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations
Velho, Renata Voltolini, Harms, Frederike L., Danyukova, Tatyana, Ludwig, Nataniel F., Friez, Michael J., Cathey, Sara S., Filocamo, Mirella, Tappino, Barbara, Güneş, Nilay, Tüysüz, Beyhan, Tylee, Karen L., Brammeier, Kathryn L., Heptinstall, Lesley, Oussoren, Esmee, Ploeg, Ans T., Petersen, Christine, Alves, Sandra, Saavedra, Gloria Durán, Schwartz, Ida V., Muschol, Nicole, Kutsche, Kerstin, Pohl, Sandra
Published in Human mutation (01.07.2019)
Published in Human mutation (01.07.2019)
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Enzyme replacement therapy and hematopoietic stem cell transplant: a new paradigm of treatment in Wolman disease
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
Published in Orphanet journal of rare diseases (21.05.2021)
Published in Orphanet journal of rare diseases (21.05.2021)
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Twice weekly dosing with Sebelipase alfa (Kanuma®) rescues severely ill infants with Wolman disease
de Castro, María José, Jones, Simon A, de Las Heras, Javier, Sánchez-Pintos, Paula, Couce, María L, Colón, Cristóbal, Crujeiras, Pablo, Unceta, María, Church, Heather, Brammeier, Kathryn, Yee, Wu Hoi, Cooper, James, López de Frutos, Laura, Serrano-Gonzalo, Irene, Camba, María José, White, Fiona J, Holmes, Victoria, Ghosh, Arunabha
Published in Orphanet journal of rare diseases (25.06.2024)
Published in Orphanet journal of rare diseases (25.06.2024)
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Validation of an assay to measure iduronate-2-sulfatase activity in cerebrospinal fluid to assess the efficacy of a hematopoietic stem cell (HSC) gene therapy
French, Stephanie A., Brammeier, Kathryn L., Jones, Simon, Tylee, Karen L., Church, Heather J.
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Twice weekly dosing with sebelipase alfa rescues severely ill infants with Wolman disease
Lopez, Maria Jose De Castro, de Frutos, Laura López, Brammeier, Kathryn L., Church, Heather J., Couce, Maria Luz, Jones, Simon, Ghosh, Arunabha
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Validation of ELISA and cellular uptake inhibition assays to detect and quantify antibodies raised against sebelipase alfa in lysosomal acid lipase deficiency
Church, Heather, Brammeier, Kathryn L., Broomfield, Alex, Ghosh, Arunabha, Jones, Simon, Tylee, Karen
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Graft rejection and spontaneous recovery in mucopolysaccharidosis type I post-HSCT
Church, Heather J., Brammeier, Kathryn L., Petty, June, Mercer, Jean, Tylee, Karen L., Ghosh, Arunabha, Jones, Simon A., Wynn, Robert F.
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Sustained biochemical engraftment and early clinical outcomes following autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Jones, Simon, Kinsella, Jane, Holley, Rebecca, Potter, Jane, Booth, Claire, Buckland, Karen, Rust, Stewart, Church, Heather J., Brammeier, Kathryn L., Lee, Helena, Ford, Laura, Ellison, Stuart M., Bigger, Brian, Wynn, Robert
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Sustained biochemical engraftment and early clinical outcomes following ex-vivo autologous stem cell gene therapy for mucopolysaccharidosis type IIIA
Jones, Simon, Kinsella, Jane, Holley, Rebecca, Potter, Jane, Booth, Claire, Buckland, Karen, Rust, Stewart, Church, Heather J., Brammeier, Kathryn L., Lee, Helena, Ford, Laura, Ellison, Stuart M., Bigger, Brian, Wynn, Robert
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA
Wynn, Robert F, Kinsella, Jane L, Holley, Rebecca J, Potter, Jane, Thrasher, Adrian J., Booth, Claire, Buckland, Karen, Izotova, Natalia, Rust, Stewart, Weisberg, Daniel, Church, Heather J, Tylee, Karen L, Brammeier, Kathryn L, Lee, Helena, Ford, Laura, Sadegholnejat, Atusa, Jones, Simon A, Ellison, Stuart, Bigger, Brian
Published in Blood (15.11.2022)
Published in Blood (15.11.2022)
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Journal Article
Ex-Vivo Autologous Stem Cell Gene Therapy Clinical Trial for Mucopolysaccharidosis Type IIIA: Trial in Progress - NCT04201405
Kinsella, Jane L, Wynn, Robert F, Bigger, Brian, Thrasher, Adrian J., Booth, Claire, Buckland, Karen, Izotova, Natalia, Rust, Stewart, Weisberg, Daniel, Church, Heather J, Brammeier, Kathryn L, Tylee, Karen L, Jones, Ceri, Lee, Helena, Ford, Laura, Sadegholnejat, Atusa, Ellison, Stuart, Jones, Simon A
Published in Blood (05.11.2020)
Published in Blood (05.11.2020)
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How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency
Church, Heather J., Brammeier, Kathryn L., Petty, June, Egerton, Christine, Righart, Jessica, Heptinstall, Lesley, Jones, Simon A., Tylee, Karen L.
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article
Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial
Kinsella, Jane Louise, Jones, Simon, Thrasher, Adrian J., Booth, Claire, Buckland, Karen F., Izotova, Natalia, Rust, Stewart, Weisberg, Daniel, Church, Heather J., Tylee, Karen L., Brammeier, Kathryn L., Jones, Ceri, Lee, Helena, Ford, Laura, Sadegholnejat, Atusa, Ellison, Stuart, Bigger, Brian W., Wynn, Robert F.
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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