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Deborah Renaud

Mayo Clinic

SCHOLARLY PAPERS

2

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107

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Scholarly Papers (2)

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1.

Polr3-Related Leukodystrophy: A Qualitative Study on Parents’ Experiences with the Healthcare System

Number of pages: 22 Posted: 21 Nov 2024
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Enrico Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores González Monron, Marcelo Andrés Kauffman, Danilo De Assis Pereira, Adeline Vanderver, Maxime Morsa and Geneviève Bernard
McGill University - Department of Neurology and Neurosurgery, University of Montreal, University of Montreal, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Ottawa - Faculty of Medicine, Western University, Emory University, Mayo Clinic, Universidad Austral, Universidad Austral, affiliation not provided to SSRN, University of Pennsylvania, affiliation not provided to SSRN and McGill University
Downloads 54 (1,020,567)

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POLR3-related leukodystrophy, Thematic Analysis, Healthcare Experiences, Rare Disease, Parents/Caregivers, Access to care, Quality of care

2.

The Impact of POLR3-related Leukodystrophy on Non-Affected Family Members: A Qualitative Study

Number of pages: 31 Posted: 11 Sep 2025
Adam Le, Kelly-Ann Thibault, Pouneh Amir Yazdani, Alexandra Chapleau, Romy J. van Voorst, Enrico Silvio Bertini, Francesco Nicita, Daniela Pohl, Sunita Venkateswaran, Stephanie Keller, Deborah Renaud, Dolores González Monron, Marcelo Andrés Kauffman, Danilo De Assis Pereira, Adeline Vanderver, MS. van der Knaap, Maxime Morsa and Geneviève Bernard
McGill University - Department of Neurology and Neurosurgery, University of Montreal, University of Montreal, affiliation not provided to SSRN, University of Amsterdam - Amsterdam UMC, affiliation not provided to SSRN, affiliation not provided to SSRN, University of Ottawa - Faculty of Medicine, Western University, Emory University, Mayo Clinic, Universidad Austral, Universidad Austral, affiliation not provided to SSRN, affiliation not provided to SSRN, Child Neurology, Emma Children’s Hospital, Amsterdam University Medical Centers, Vrije Universiteit and Amsterdam Neuroscience, affiliation not provided to SSRN and McGill University
Downloads 53 (1,031,043)

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POLR3-related Leukodystrophy, Thematic Analysis, Burden of Disease, Rare Disease, Parents and Caregivers, Impact on Siblings