Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review.
Michael PuglieseKylie TingleyAndrea ChowNicole PalloneMaureen SmithAlvi RahmanPranesh ChakrabortyMichael T GeraghtyJulie IrwinLaure TessierStuart G NichollsMartin OffringaNancy J ButcherRyan IversonTammy J CliffordSylvia StocklerBrian HuttonKaren PaikJessica TaoBecky SkidmoreDoug CoyleKathleen DuddySarah DyackCheryl R GreenbergShailly Jain GhaiNatalya KarpLawrence KorngutJonathan KronickAlex MacKenzieJennifer MacKenzieBruno MarandaJohn J MitchellMurray PotterChitra PrasadAndreas SchulzeRebecca SparkesMonica TaljaardYannis TrakadisJagdeep WaliaBeth K Potternull nullPublished in: Orphanet journal of rare diseases (2020)
Heterogeneity of reported outcomes and outcome measurement instruments across published studies for both MCAD deficiency and PKU highlights the need for COSs for these diseases, to promote the use of meaningful outcomes and facilitate comparisons across studies.