Efficacy of avalglucosidase alfa on forced vital capacity percent predicted in treatment-naïve patients with late-onset Pompe disease: A pooled analysis of clinical trials

Authors: Tahseen Mozaffar, Lionel Riou França, Jérôme Msihid, Pragya Shukla, Irina Proskorovsky, Tianyue Zhou, Magali Periquet, Kristina An Haack, Laurence Pollissard, Volker Straub

Source: Molecular Genetics and Metabolism Reports, Vol 40, Iss , Pp 101109- (2024)

Subject Terms: Late-onset Pompe disease, Enzyme replacement therapy, Avalglucosidase alfa, Alglucosidase alfa, Respiratory, Medicine (General), R5-920, Biology (General), QH301-705.5

File Description: electronic resource

Relation: http://www.sciencedirect.com/science/article/pii/S2214426924000624; https://doaj.org/toc/2214-4269

Access URL: https://doaj.org/article/8c1269ee7f074a86a443bd3cdd49e43a

The value of knowing: preferences for genetic testing to diagnose rare muscle diseases

Authors: Carol Mansfield, Marco Boeri, Josh Coulter, Eileen Baranowski, Susan Sparks, Kristina An Haack, Alaa Hamed

Source: Orphanet Journal of Rare Diseases, Vol 19, Iss 1, Pp 1-11 (2024)

Subject Terms: Neuromuscular disease, Pompe disease, Genetic test, Diagnosis, Screening, Discrete-choice experiment, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/4f87b512d9d74070b33b0313593413c4

Learning from conect4children: A Collaborative Approach towards Standardisation of Disease-Specific Paediatric Research Data

Authors: Anando Sen, Victoria Hedley, Eva Degraeuwe, Steven Hirschfeld, Ronald Cornet, Ramona Walls, John Owen, Peter N. Robinson, Edward G. Neilan, Thomas Liener, Giovanni Nisato, Neena Modi, Simon Woodworth, Avril Palmeri, Ricarda Gaentzsch, Melissa Walsh, Teresa Berkery, Joanne Lee, Laura Persijn, Kasey Baker, Kristina An Haack, Sonia Segovia Simon, Julius O. B. Jacobsen, Giorgio Reggiardo, Melissa A. Kirwin, Jessie Trueman, Claudia Pansieri, Donato Bonifazi, Sinéad Nally, Fedele Bonifazi, Rebecca Leary, Volker Straub

Source: Data, Vol 9, Iss 4, p 55 (2024)

Subject Terms: conect4children, paediatric clinical trials, data standards, FAIR principles, interoperability, CDISC, Bibliography. Library science. Information resources

File Description: electronic resource

Relation: https://www.mdpi.com/2306-5729/9/4/55; https://doaj.org/toc/2306-5729

Access URL: https://doaj.org/article/e7a77672ae75448a8d6368c5e0e60542

Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective

Authors: Alaa Hamed, Kristina An Haack, Chad Gwaltney, Eileen Baranowski, Andrew Stewart, Robert Krupnick, Margaret Tyler, Susan Sparks, Jean Paty

Source: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-12 (2021)

Subject Terms: Late-onset Pompe disease, PROs, Conceptual model, Symptoms, Patient experience, Functional impacts, Medicine

File Description: electronic resource

Relation: https://doaj.org/toc/1750-1172

Access URL: https://doaj.org/article/19214d500bec44159cf3a2fb553915bd

Development and content validation of the Pediatric Oral Medicines Acceptability Questionnaires (P-OMAQ): patient-reported and caregiver-reported outcome measures

Authors: Diane M. Turner-Bowker, Kristina An Haack, Meaghan Krohe, Andrew Yaworsky, Norma Vivas, Masami Kelly, Godhuli Chatterjee, Emily Chaston, Erin Mann, Matthew Reaney

Source: Journal of Patient-Reported Outcomes, Vol 4, Iss 1, Pp 1-18 (2020)

Subject Terms: Acceptability, Pediatric oral medicines, Oral formulations, Questionnaires, Clinical outcome assessments, Caregivers, Public aspects of medicine, RA1-1270

File Description: electronic resource

Relation: http://link.springer.com/article/10.1186/s41687-020-00246-1; https://doaj.org/toc/2509-8020

Access URL: https://doaj.org/article/11da081994464c44b9d955157625df17

Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.

Authors: Frits A Wijburg, Bernard Bénichou, Daniel G Bichet, Lorne A Clarke, Gabriela Dostalova, Alejandro Fainboim, Andreas Fellgiebel, Cassiano Forcelini, Kristina An Haack, Robert J Hopkin, Michael Mauer, Behzad Najafian, C Ronald Scott, Suma P Shankar, Beth L Thurberg, Camilla Tøndel, Anna Tylki-Szymańska, Uma Ramaswami

Source: PLoS ONE, Vol 10, Iss 5, p e0124987 (2015)

Subject Terms: Medicine, Science

File Description: electronic resource

Relation: https://doaj.org/toc/1932-6203

Access URL: https://doaj.org/article/d2e2eaf3e691443aac855665f5d88ee5

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