Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency
Raebel, Eva M, Wiseman, Samantha, Donnelly, Conan, Mathieson, Toni, Pountney, Jackson, Crowe, Joslyn, Hopkin, Justin
Published in Orphanet journal of rare diseases (01.02.2024)
Published in Orphanet journal of rare diseases (01.02.2024)
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Journal Article
Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases
Stein, Susan, Bogard, Elizabeth, Boice, Nicole, Fernandez, Vivian, Field, Tessa, Gilstrap, Alan, Kahn, Susan R, Larkindale, Jane, Mathieson, Toni
Published in Orphanet journal of rare diseases (22.01.2018)
Published in Orphanet journal of rare diseases (22.01.2018)
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Journal Article
International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study
Evans, William, Patterson, Marc, Platt, Frances, Guldberg, Christina, Mathieson, Toni, Pacey, Jessica
Published in Orphanet journal of rare diseases (18.11.2021)
Published in Orphanet journal of rare diseases (18.11.2021)
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Journal Article
Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective
Mengel, Eugen, Patterson, Marc C, Chladek, Michael, Guldberg, Christina, Í Dali, Christine, Symonds, Tara, Lloyd-Price, Lucy, Mathieson, Toni, Crowe, Joslyn, Burbridge, Claire
Published in Orphanet journal of rare diseases (24.11.2021)
Published in Orphanet journal of rare diseases (24.11.2021)
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Journal Article
Acid sphingomyelinase deficiency: Burden of disease and real world impact of enzyme replacement therapy on pediatric patients and caregivers
Hopkin, Justin, Donnelly, Conan, Crowe, Joslyn, Mathieson, Toni, Mbua, Solomon
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
The International Niemann-Pick Disease Registry (INPDR): A beacon for rare diseases
Imrie, Jackie, Green, Jim, Mathieson, Toni, Bolton, Shaun, Wilson, Angela
Published in Molecular genetics and metabolism (01.02.2020)
Published in Molecular genetics and metabolism (01.02.2020)
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Journal Article
Collaboration between patient advocacy and industry to create a master protocol to investigate the novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosides and ataxia-telangiectasia
Fields, Taylor, Crowe, Joslyn, Evans, Will, Greenfield, Julie, Hopkin, Justin, Thornton, Jennifer K., Lewi, Daniel, Mathieson, Toni, Pangonis, Diana
Published in Molecular genetics and metabolism (01.02.2023)
Published in Molecular genetics and metabolism (01.02.2023)
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Journal Article
Challenges of regulatory requirements for patient registries in different countries
Imrie, Jackie, Patterson, Marc, Green, Jim, Mathieson, Toni, Bolton, Shaun
Published in Molecular genetics and metabolism (01.02.2019)
Published in Molecular genetics and metabolism (01.02.2019)
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Journal Article
Impacts and burden of Niemann-Pick disease type C: A patient and caregiver perspective
Mengel, Eugen, Patterson, Marc, Chladek, Michael, Guldberg, Christina, Dali, Christine i, Symonds, Tara, Lloyd-Price, Lucy, Mathieson, Toni, Crowe, Joslyn, Burbridge, Claire
Published in Molecular genetics and metabolism (01.02.2021)
Published in Molecular genetics and metabolism (01.02.2021)
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Journal Article
Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK
Collin-Histed, Tanya, Lavery, Christine, Mathieson, Toni, Roberts, Pat, Muir, Allan, West, Andrea, Lewi, Dan
Published in Molecular genetics and metabolism (01.02.2018)
Published in Molecular genetics and metabolism (01.02.2018)
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Journal Article