Search Results - "Mathieson, Toni"

Real-life impacts of olipudase alfa: The experience of patients and families taking an enzyme replacement therapy for acid sphingomyelinase deficiency by Raebel, Eva M, Wiseman, Samantha, Donnelly, Conan, Mathieson, Toni, Pountney, Jackson, Crowe, Joslyn, Hopkin, Justin

“…Acid Sphingomyelinase Deficiency (ASMD) is an ultra-rare autosomal recessive lysosomal storage disorder characterized by intracellular lipid accumulation…”
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Principles for interactions with biopharmaceutical companies: the development of guidelines for patient advocacy organizations in the field of rare diseases by Stein, Susan, Bogard, Elizabeth, Boice, Nicole, Fernandez, Vivian, Field, Tessa, Gilstrap, Alan, Kahn, Susan R, Larkindale, Jane, Mathieson, Toni

“…Rare diseases are a global public health concern, affecting an estimated 350 million individuals. Only 5% of approximately 7000 known rare diseases have a…”
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Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR) by Bolton, Shaun C, Soran, Vina, Marfa, Mercedes Pineda, Imrie, Jackie, Gissen, Paul, Jahnova, Helena, Sharma, Reena, Jones, Simon, Santra, Saikat, Crushell, Ellen, Stampfer, Miriam, Coll, Maria Jose, Dawson, Charlotte, Mathieson, Toni, Green, James, Dardis, Andrea, Bembi, Bruno, Patterson, Marc C, Vanier, Marie T, Geberhiwot, Tarekegn

“…Niemann-Pick Disease Type C (NPC) is an autosomal recessive rare disease characterised by progressive neurovisceral manifestations. The collection of on-going…”
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International consensus on clinical severity scale use in evaluating Niemann-Pick disease Type C in paediatric and adult patients: results from a Delphi Study by Evans, William, Patterson, Marc, Platt, Frances, Guldberg, Christina, Mathieson, Toni, Pacey, Jessica

“…Several scales have been developed in the past two decades to evaluate Niemann-Pick disease Type C (NPC) severity in clinical practice and trials. However, a…”
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Impacts and Burden of Niemann pick Type-C: a patient and caregiver perspective by Mengel, Eugen, Patterson, Marc C, Chladek, Michael, Guldberg, Christina, Í Dali, Christine, Symonds, Tara, Lloyd-Price, Lucy, Mathieson, Toni, Crowe, Joslyn, Burbridge, Claire

“…Niemann-Pick disease type C (NPC) is a debilitating condition that impacts patients' and caregivers' quality of life (QOL) and reduces the patient's life…”
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A global survey to investigate experiences of Niemann-Pick disease type C patients and their caregivers by Donnelly, Conan B., Mbua, Solomon, Mathieson, Toni

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Acid sphingomyelinase deficiency: Burden of disease and real world impact of enzyme replacement therapy on pediatric patients and caregivers by Hopkin, Justin, Donnelly, Conan, Crowe, Joslyn, Mathieson, Toni, Mbua, Solomon

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The International Niemann-Pick Disease Registry (INPDR): A beacon for rare diseases by Imrie, Jackie, Green, Jim, Mathieson, Toni, Bolton, Shaun, Wilson, Angela

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

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Challenges of regulatory requirements for patient registries in different countries by Imrie, Jackie, Patterson, Marc, Green, Jim, Mathieson, Toni, Bolton, Shaun

“…The International Niemann-Pick Disease Registry (INPDR) is a single, rare disease-specific registry collating global Niemann-Pick Disease data. Created by…”
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Impacts and burden of Niemann-Pick disease type C: A patient and caregiver perspective by Mengel, Eugen, Patterson, Marc, Chladek, Michael, Guldberg, Christina, Dali, Christine i, Symonds, Tara, Lloyd-Price, Lucy, Mathieson, Toni, Crowe, Joslyn, Burbridge, Claire

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Collaborative working to advance standards of care and the well-being of lysosomal disorder patients and families in the UK by Collin-Histed, Tanya, Lavery, Christine, Mathieson, Toni, Roberts, Pat, Muir, Allan, West, Andrea, Lewi, Dan

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