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Table 1 Characteristics of studies included in data synthesis

From: Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

MCAD deficiency (n = 52)n (%)PKU (n = 343)n (%)
Publication Year
 1994–19995 (10%)2000–200484 (24%)
 2000–200917 (33%)2005–200967 (20%)
 2010–201830 (58%)2010–2014120 (35%)
  2015–201872 (21%)
Country of Origin
 Australia5 (10%)Australia10 (3%)
 Germany7 (13%)Germany37 (11%)
 Iran1 (2%)Iran11 (3%)
 Italy0 (0%)Italy25 (7%)
 The Netherlands5 (10%)The Netherlands31 (9%)
 Spain3 (6%)Spain26 (8%)
 United Kingdom5 (10%)United Kingdom26 (8%)
 United States20 (38%)United States68 (20%)
 Other country6 (12%)Other country109 (32%)
Study Design
 Core outcome set1 (2%)Core outcome set1 (< 1%)
 Guidelines/recommendations5 (10%)Guidelines/recommendations18 (5%)
 Observational study44 (85%)Observational study283 (83%)
 Qualitative1 (2%)Qualitative2 (1%)
 Trial1 (2%)Trial39 (11%)
Median (IQR) Sample Size
n = 45a59 (37–180)n = 315c54 (30–106)
Age Range of Study Participants
n = 47b n = 325d 
 Newborns only21 (45%)Newborns only35 (11%)
 Children19 (40%)Infants2 (1%)
 Children and adults combined6 (13%)Children181 (56%)
 Children and maybe adults1 (2%)Children and adults combined104 (32%)
  Children and maybe adults3 (1%)
Number of outcomes reported/discussed per article
 111 (21%)183 (24%)
 2–524 (46%)2–5180 (52%)
 6–1010 (19%)6–1051 (15%)
 11 or more7 (13%)11 or more29 (8%)
  1. aExcluded five guidelines/recommendations that did not collect samples, one study where the samples size was not clear, and one registered clinical trial where only target sample size was reported
  2. bExcluded five guidelines/recommendations that did not include participants
  3. cExcluded 18 guidelines/recommendations which did not collect samples, three studies where the samples size was not clear, and seven registered clinical trials where only target sample size was reported
  4. dExcluded 18 guidelines/recommendations which did not include participants
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