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. 2023 Feb 28;21:157. doi: 10.1186/s12967-023-04011-y

Table 8.

EI Extraction of classic homocystinuria, a subtype of homocystinuria [99]

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