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Table 1 Studies of prevalence of Fabry disease

From: Fabry disease

Methods Source Ascertainment period Total number of cases No. per
100000
Country and reference
Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of births) Two centres holding all enzymatic analyses in Australia 1980-1996 36 0.85 Australia [34]
Birth prevalence (number of cases born within a certain period divided by total number of live births in the same period) All the laboratories making pre- and postnatal diagnoses of LSDs in The Netherlands 1970-1996 27 0.21 The Netherlands [33]
Prevalence of obligate carriers By family history, from the UK AFD register 1980-1995 60 0.29 UK (females only) [26]
Prevalence Records from regional genetic units and enzyme reference laboratories; records from individual doctors 1980-1995 98 0.27 UK (males only) [425]
Birth prevalence (number of cases born within a certain time period divided by total number of live births in the same period) Two main reference centres for diagnosis of sphingolipidoses by enzyme analysis of patients under 5 years suspected of LSD 1997-2002 1 0.015 Turkey [426]
Birth prevalence (number of postnatal plus prenatal enzymatic diagnoses divided by number of live births) in north Portugal One centre providing all pre- and postnatal diagnoses of LSDs in Portugal 1982-2001 1 0.12 North Portugal [427]
Neonatal screening Northern Italy 2004-2006 12 30 Italy [35]
Neonatal screening Taiwan 2006-2008 73 80 Taiwan [36]