Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

• Main Authors: Ryan Iverson (Author), Monica Taljaard (Author), Michael T. Geraghty (Author), Michael Pugliese (Author), Kylie Tingley (Author), Doug Coyle (Author), Jonathan B. Kronick (Author), Kumanan Wilson (Author), Valerie Austin (Author), Catherine Brunel-Guitton (Author), Daniela Buhas (Author), Nancy J. Butcher (Author), Alicia K. J. Chan (Author), Sarah Dyack (Author), Sharan Goobie (Author), Cheryl R. Greenberg (Author), Shailly Jain-Ghai (Author), Michal Inbar-Feigenberg (Author), Natalya Karp (Author), Mariya Kozenko (Author), Erica Langley (Author), Matthew Lines (Author), Julian Little (Author), Jennifer MacKenzie (Author), Bruno Maranda (Author), Saadet Mercimek-Andrews (Author), Aizeddin Mhanni (Author), John J. Mitchell (Author), Laura Nagy (Author), Martin Offringa (Author), Amy Pender (Author), Murray Potter (Author), Chitra Prasad (Author), Suzanne Ratko (Author), Ramona Salvarinova (Author), Andreas Schulze (Author), Komudi Siriwardena (Author), Neal Sondheimer (Author), Rebecca Sparkes (Author), Sylvia Stockler-Ipsiroglu (Author), Kendra Tapscott (Author), Yannis Trakadis (Author), Lesley Turner (Author), Clara Van Karnebeek (Author), Anthony Vandersteen (Author), Jagdeep S. Walia (Author), Brenda J. Wilson (Author), Andrea C. Yu (Author), Beth K. Potter (Author), Pranesh Chakraborty (Author)
• Format: Book
• Published: BMC, 2024-01-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Generating rigorous evidence to inform care for rare diseases requires reliable, sustainable, and longitudinal measurement of priority outcomes. Having developed a core outcome set for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency, we aimed to assess the feasibi...