Variables influencing fluorimetric N-sulfoglucosamine sulfohydrolase (SGSH) activity measurement in brain homogenates

por Whyte, Lauren S., Hopwood, John J., Hemsley, Kim M., Lau, Adeline A.
Publicado 2015

Mucopolysaccharidosis VI in cats – clarification regarding genetic testing

por Lyons, Leslie A., Grahn, Robert A., Genova, Francesca, Beccaglia, Michela, Hopwood, John J., Longeri, Maria
Publicado 2016

The effects of intracisternal enzyme replacement versus sham treatment on central neuropathology in preclinical canine fucosidosis

por Kondagari, Gauthami Sudhamayee, Fletcher, Jessica Louise, Cruz, Rachel, Williamson, Peter, Hopwood, John J., Taylor, Rosanne Maree
Publicado 2015

Mucopolysaccharidosis type VI (MPS VI) and molecular analysis: Review and classification of published variants in the ARSB gene

por Tomanin, Rosella, Karageorgos, Litsa, Zanetti, Alessandra, Al‐Sayed, Moeenaldeen, Bailey, Mitch, Miller, Nicole, Sakuraba, Hitoshi, Hopwood, John J.
Publicado 2018

Lysosomal gene Hexb displays haploinsufficiency in a knock-in mouse model of Alzheimer’s disease

por Whyte, Lauren S., Fourrier, Célia, Hassiotis, Sofia, Lau, Adeline A., Trim, Paul J., Hein, Leanne K., Hattersley, Kathryn J., Bensalem, Julien, Hopwood, John J., Hemsley, Kim M., Sargeant, Timothy J.
Publicado 2022

Prevalence of Anti–Adeno-Associated Virus Serotype 8 Neutralizing Antibodies and Arylsulfatase B Cross-Reactive Immunologic Material in Mucopolysaccharidosis VI Patient Candidates...

por Ferla, Rita, Claudiani, Pamela, Savarese, Marco, Kozarsky, Karen, Parini, Rossella, Scarpa, Maurizio, Donati, Maria Alice, Sorge, Giovanni, Hopwood, John J., Parenti, Giancarlo, Fecarotta, Simona, Nigro, Vincenzo, Sivri, Hatice Serap, Van Der Ploeg, Ans, Andria, Generoso, Brunetti-Pierri, Nicola, Auricchio, Alberto
Publicado 2015

A Comparative Effectiveness Study of Newborn Screening Methods for Four Lysosomal Storage Disorders †

por Sanders, Karen A., Gavrilov, Dimitar K., Oglesbee, Devin, Raymond, Kimiyo M., Tortorelli, Silvia, Hopwood, John J., Lorey, Fred, Majumdar, Ramanath, Kroll, Charles A., McDonald, Amber M., Lacey, Jean M., Turgeon, Coleman T., Tucker, Justin N., Tang, Hao, Currier, Robert, Isaya, Grazia, Rinaldo, Piero, Matern, Dietrich
Publicado 2020

Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase

por Harmatz, Paul, Yu, Zi-Fan, Giugliani, Roberto, Schwartz, Ida Vanessa D., Guffon, Nathalie, Teles, Elisa Leão, Miranda, M. Clara Sá, Wraith, J. Edmond, Beck, Michael, Arash, Laila, Scarpa, Maurizio, Ketteridge, David, Hopwood, John J., Plecko, Barbara, Steiner, Robert, Whitley, Chester B, Kaplan, Paige, Swiedler, Stuart J., Hardy, Karen, Berger, Kenneth I., Decker, Celeste
Publicado 2010