Table 5.
Birth prevalence | PER 10, 000 | Evidence of consanguinity | Evidence of ethnicity founder effect | Representative of whole country | Study period | Age at diagnoses | Cases born during study period Ɨ | Denominator = live births | Recommended enzymatic analysis | Quality | |
---|---|---|---|---|---|---|---|---|---|---|---|
Saudi Arabia (Eastern Province) [34] | 1 per 28, 000* | 0.362* | Y | N | N | 25 (1983–2008) | NR | Y | Y | Yǂ | low |
Denmark [33] | 1 per 208, 000* | 0.048* | N | Y | y | 29 (1975–2004) | NR | NR | Y | Yǂ | low |
Colombia (B&C) [39] | 1 per 147, 000* | 0.068* | N | N | N | 9 (1998–2007) | NR | Y | Y | unclear | medium |
Canada (BC) [40] | 1 per 303,000 | 0.033* | N | N | N | 16 (1952–1968) | NR | NR | NR | low |
Abbreviations: BC British Colombia, B&C Boyacá and Cundinamarca, KOL Key Opinion Leader, N No, NR Not recorded, UK United Kingdom, Y Yes.
*calculated by authors; Ɨassumed from the study period and age at diagnosis; ǂFibroblast & Leukocyte based analysis.