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

被引：0
作者：
Ryan Iverson
Monica Taljaard
Michael T. Geraghty
Michael Pugliese
Kylie Tingley
Doug Coyle
Jonathan B. Kronick
Kumanan Wilson
Valerie Austin
Catherine Brunel-Guitton
Daniela Buhas
Nancy J. Butcher
Alicia K. J. Chan
Sarah Dyack
Sharan Goobie
Cheryl R. Greenberg
Shailly Jain-Ghai
Michal Inbar-Feigenberg
Natalya Karp
Mariya Kozenko
Erica Langley
Matthew Lines
Julian Little
Jennifer MacKenzie
Bruno Maranda
Saadet Mercimek-Andrews
Aizeddin Mhanni
John J. Mitchell
Laura Nagy
Martin Offringa
Amy Pender
Murray Potter
Chitra Prasad
Suzanne Ratko
Ramona Salvarinova
Andreas Schulze
Komudi Siriwardena
Neal Sondheimer
Rebecca Sparkes
Sylvia Stockler-Ipsiroglu
Kendra Tapscott
Yannis Trakadis
Lesley Turner
Clara Van Karnebeek
Anthony Vandersteen
Jagdeep S. Walia
Brenda J. Wilson
Andrea C. Yu
Beth K. Potter
Pranesh Chakraborty
机构：
[1] University of Ottawa,School of Epidemiology and Public Health
[2] Ottawa Hospital Research Institute,Clinical Epidemiology Program
[3] Children’s Hospital of Eastern Ontario and University of Ottawa,Department of Pediatrics
[4] The Hospital for Sick Children/University of Toronto,Department of Medicine
[5] Bruyère Research Institute,Department of Medical Genetics
[6] University of Ottawa,Emma Center for Personalized Medicine
[7] Le Centre Hospitalier Universitaire Ste-Justine,undefined
[8] McGill University Health Centre,undefined
[9] The Hospital for Sick Children Research Institute/University of Toronto,undefined
[10] University of Alberta/Stollery Children’s Hospital,undefined
[11] IWK Health Centre/Dalhousie University,undefined
[12] Health Sciences Centre Winnipeg/University of Manitoba,undefined
[13] London Health Sciences Centre/Western University,undefined
[14] McMaster Children’s Hospital,undefined
[15] Hamilton Health Sciences Centre/McMaster University,undefined
[16] Janeway Children’s Hospital/Memorial University,undefined
[17] CIUSSSE-CHUS,undefined
[18] Université de Sherbrooke,undefined
[19] Sherbrooke,undefined
[20] Canada,undefined
[21] BC Children’s Hospital/University of British Columbia,undefined
[22] Alberta Children’s Hospital/University of Calgary,undefined
[23] Amsterdam University Medical Centers,undefined
[24] Kingston Health Sciences/Queen’s University,undefined
[25] Newborn Screening Ontario,undefined
来源：
BMC Pediatrics | / 24卷
关键词：
MCAD deficiency; Core outcome set; Data quality;
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[1]  
Horvath GA(2008)Newborn screening for MCAD deficiency: Experience of the first three years in British Columbia, Canada Can J Public Heal 99 276-280
[2]  
Davidson AGF(2010)The first three years of screening for medium chain acyl-CoA dehydrogenase deficiency (MCADD) by newborn screening ontario BMC Pediatr 10 82-408
[3]  
Stockler-Ipsiroglu SG(2001)Molecular and functional characterisation of mild MCAD deficiency Hum Genet 108 404-520
[4]  
Lillquist YP(2017)Parental experiences of raising a child with medium chain Acyl-CoA dehydrogenase deficiency Glob Qual Nurs Res 4 2333393617707080-415
[5]  
Waters PJ(2010)The clinical manifestation of MCAD deficiency: Challenges towards adulthood in the screened population J Inherit Metab Dis 33 513-152
[6]  
Olpin S(1994)Medium-chain acyl-coenzyme A dehydrogenase deficiency: Clinical course in 120 affected children J Pediatr 124 409-1675
[7]  
Kennedy S(2021)Management principles for acute illness in patients with medium-chain acyl-coenzyme a dehydrogenase deficiency Pediatrics 147 141-123
[8]  
Potter BK(2018)P37 A single paediatric centre experience of l-carnitine supplementation in medium-chain acyl-coa dehydrogenase deficiency (mcadd) Arch Dis Child 103 1667-123
[9]  
Wilson K(2005)L-Carnitine and exercise tolerance in medium-chain acyl-coenzyme A dehydrogenase (MCAD) deficiency: A pilot study J Inherit Metab Dis 28 115-81
[10]  
Fisher L(2013)Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-Carnitine supplementation J Clin Endocrinol Metab 98 117-11
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