Toni Mathieson - AI Profile | 人才画像

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论文共 10 篇作者统计合作学者相似作者

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Real-life Impacts of Olipudase Alfa: the Experience of Patients and Families Taking an Enzyme Replacement Therapy for Acid Sphingomyelinase Deficiency

Eva M. Raebel, Samantha Wiseman,Conan Donnelly,Toni Mathieson,Jackson Pountney,Joslyn Crowe,Justin Hopkin

Orphanet Journal of Rare Diseasesno. 1 (2024)

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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

Taylor Fields,Joslyn Crowe, Will Evans,Julie Greenfield,Justin Hopkin, Jennifer K. Thornton,Daniel Lewi,Toni Mathieson,Diana Pangonis

Molecular Genetics and Metabolismno. 2 (2023): 107099-107099

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Acid Sphingomyelinase Deficiency: Burden of Disease and Real World Impact of Enzyme Replacement Therapy on Pediatric Patients and Caregivers

Justin Hopkin,Conan Donnelly,Joslyn Crowe,Toni Mathieson,Solomon Mbua

Molecular Genetics and Metabolism（2023）

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A Global Survey to Investigate Experiences of Niemann-Pick Disease Type C Patients and Their Caregivers

Conan B. Donnelly,Solomon Mbua,Toni Mathieson

Molecular Genetics and Metabolismno. 2 (2023): 107085-107085

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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

Orphanet Journal of Rare Diseases（2021）

引用3浏览0WOS引用

The International Niemann-Pick Disease Registry (INPDR): A beacon for rare diseases

Jackie Imrie,Jim Green,Toni Mathieson,Shaun Bolton, Angela Wilson

MOLECULAR GENETICS AND METABOLISM（2020）

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Challenges of Regulatory Requirements for Patient Registries in Different Countries

Jackie Imrie,Marc Patterson,Jim Green,Toni Mathieson,Shaun Bolton

MOLECULAR GENETICS AND METABOLISM（2019）

引用0浏览0引用

Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK

Tanya Collin-Histed,Christine Lavery,Toni Mathieson, Pat Roberts, Allan Muir,Andrea West, Dan Lewi

Molecular Genetics and Metabolism（2018）

引用0浏览0引用

Principles for Interactions with Biopharmaceutical Companies: the Development of Guidelines for Patient Advocacy Organizations in the Field of Rare Diseases

Susan Stein, Elizabeth Bogard, Nicole Boice,Vivian Fernandez,Tessa Field,Alan Gilstrap,Susan R. Kahn,Jane Larkindale,Toni Mathieson

Orphanet Journal of Rare Diseases（2018）

引用26浏览0WOS引用

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