The lysosomal disease caused by mutant VPS33A von 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

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

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Hematopoietic stem cell transplantation improves the high incidence of neutralizing allo-antibodies observed in Hurler’s syndrome after pharmacological enzyme replacement therapy von AMEER SAIF, Muhammad, BIGGER, Brian W, BROOKES, Karen E, MERCER, Jean, TYLEE, Karen L, CHURCH, Heather J, BONNEY, Denise K, JONES, Simon, ED WRAITH, J, WYNN, Robert F

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The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma: Update on GNPTAB and GNPTG mutations von 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

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Identification of patients with Fabry disease using routine pathology results: PATHFINDER (eGFR) study von Reynolds, Tim M., Tylee, Karen L., Booth, Kathryn L., Wierzbicki, Anthony S.

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Juvenile mucopolysaccharidosis plus disease caused by a missense mutation in VPS33A von 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.

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Biomarker responses correlate with antibody status in mucopolysaccharidosis type I patients on long-term enzyme replacement therapy von Langereis, Eveline J., van Vlies, Naomi, Church, Heather J., Geskus, Ronald B., Hollak, Carla E.M., Jones, Simon A., Kulik, Wim, van Lenthe, Henk, Mercer, Jean, Schreider, Lena, Tylee, Karen L., Wagemans, Tom, Wijburg, Frits A., Bigger, Brian W.

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Hepatomegaly and Splenomegaly: An Approach to the Diagnosis of Lysosomal Storage Diseases von Jerves Serrano, Teodoro, Gold, Jessica, Cooper, James A, Church, Heather J, Tylee, Karen L, Wu, Hoi Yee, Kim, Sun Young, Stepien, Karolina M

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

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

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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 von French, Stephanie A., Brammeier, Kathryn L., Jones, Simon, Tylee, Karen L., Church, Heather J.

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How many sulphatase deficiencies become multiple? The diagnostic challenges of multiple sulphatase deficiency von Church, Heather J., Brammeier, Kathryn L., Petty, June, Egerton, Christine, Jones, Simon A., Crushell, Ellen, Ghosh, Arunabha, Stepien, Karolina M., Tylee, Karen L.

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Graft rejection and spontaneous recovery in mucopolysaccharidosis type I post-HSCT von Church, Heather J., Brammeier, Kathryn L., Petty, June, Mercer, Jean, Tylee, Karen L., Ghosh, Arunabha, Jones, Simon A., Wynn, Robert F.

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Biochemical Engraftment and Clinical Outcomes Following Ex-Vivo Autologous Stem Cell Gene Therapy for Mucopolysaccharidosis Type IIIA von 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

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Long-term outcomes in adult patients affected with fucosidosis: Psychosis as a new complication von Stepien, Karolina M., Chen, Cliff, Hackett, Richard, Oldham, Andrew, Ayuna, Ahmed, Jones, Simon A., Church, Heather J., Tylee, Karen L., Hendriksz, Christian J.

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Ex-Vivo Autologous Stem Cell Gene Therapy Clinical Trial for Mucopolysaccharidosis Type IIIA: Trial in Progress - NCT04201405 von 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

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How many sulphatase deficiencies become multiple: An unusual presentation of multiple sulphatase deficiency von Church, Heather J., Brammeier, Kathryn L., Petty, June, Egerton, Christine, Righart, Jessica, Heptinstall, Lesley, Jones, Simon A., Tylee, Karen L.

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Ex-vivo autologous stem cell gene therapy clinical trial for mucopolysaccharidosis type IIIA: Update on phase I/II clinical trial von 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.

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Screening for Fabry disease using dried blood spots in clinically relevant patient populations over six years von Tylee, Karen L., Agoreyo, Stephanie, Egerton, Christine, Parkes, Oliver, Church, Heather J.

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Induction of immune tolerance to enzyme replacement therapy in mucopolysaccharidosis type I von Liao, Ai Yin, Ghosh, Arunabha, O'Leary, Claire, Mercer, Jean, Church, Heather J., Tylee, Karen L., Goenka, Anu, Holley, Rebecca, Wynn, Robert F., Jones, Simon A., Bigger, Brian W.

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