Genetic diseases
Cognitive debriefing of the Barth Syndrome – Symptom Assessment (BTHS-SA)
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018.
Exploring the sign and symptom experience of Barth syndrome in adult and adolescent populations
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018.
Understanding the life experience of Barth syndrome from the perspective of older individuals
Usmani OS, Lavorini F, Marshall J, Dunlop W, Heron L, Farrington E, Dekhuijzen R
Poster presented at the 9th International Scientific, Medical, & Family Conference Meeting of the Barth Syndrome Foundation, Clearwater, FL, USA, July 16-21 2018.
Characterization of patients with galactosialidosis and sialidosis type I
Cimms T, Ali Q A, Kilgariff S, Johnson C, Arbuckle R, Malkus B, Schatz A, Haller C
Poster presentation at the 13th International Congress of Inborn Errors, 5-8 September 2017
Cognitive debriefing of the Barth Syndrome – Symptom Assessment (BTHS-SA)
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
19th Annual Conference of the United Mitochondrial Disease Foundation (June 28 – July 1); Alexandria, VA USA
Exploring the sign and symptom experience of Barth syndrome in adult and adolescent populations
Stokes J, Aiudi A, Mazar I, Elliott M, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
Poster session presented at the 22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017
Cognitive debriefing of the Primary Mitochondrial Myopathy – Symptom Assessment (PMM-SA)
Stokes J, Covino J, Aiudi A, Mazar I, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
19th Annual Conference of the United Mitochondrial Disease Foundation (June 28 – July 1); Alexandria, VA USA
Exploring and documenting the signs, symptoms, and impacts of primary mitochondrial disesase
Stokes J, Covino J, Aiudi A, Mazar I, Dillard S, Ollis S, Love E, Shields AL, Gwaltney C
Poster session presented at the 22nd Annual International Meeting of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR), Boston, MA USA, 20-24 May 2017
Development and content validity testing of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz-Webb L, Renault L, Caballero T, Longhurst H, Maurer M, Christiansen S, Zuraw B and for the Icatibant Outcome Survey (IOS) International Executive Committee and the Hereditary Angioedema Association (HAEA) Medical Advisory Board
Health Qual Life Outcomes. 2015, 13:92
Development and validation of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz L, Renault L, Caballero T
Value Health 2012;15:A558
Development and validation of a patient-reported outcomes questionnaire for the assessment of hereditary angioedema in observational studies
Bonner N, Abetz L, Renault L, Caballero T
Poster presented at the 15th Annual European Congress of the International Society for Pharmacoeconomics and Outcomes Research (ISPOR). Berlin, Germany, 2012