Table 8 EI Extraction of classic homocystinuria, a subtype of homocystinuria [99]
From: Precision information extraction for rare disease epidemiology at scale
PubMed Article Title | Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards [100] | Early diagnosis of classic homocystinuria in Kuwait through newborn screening: a 6-year experience [101] | Vascular presentation of cystathionine beta-synthase deficiency in adulthood [102] |
|---|---|---|---|
Epi Prob | 0.997 | 0.986 | 0.862 |
EPI | Incidence | Incidence | Incidence |
STAT | 1:1800 | 1:50,000 | 1:311,000 |
LOC | Qatar | Kuwait, Gulf country, Qatar, global | The, Czech Republic |
DATE | None | October 2014, between January 2015 and December 2020 | Between 1980 and 2009 |
SEX | None | None | None |
ETHN | Qatari | Arabian, Qatari | Czech |