Table 2 Genotypes and biomarkers level of patients identified in this study except for MPS 4A

Pompe

c.2024_2026del (p.N675del)/c.2040 + 1G > T^a

45.03

c.[752C > T; 761C > T] (p.[S251 L; S254 L])/c.[752C > T; 761C > T] (p.[S251 L; S254 L])

20.46

c.[1935C > A;1726G > A] (p.[D645E; G576S])/c.546 + 5 G > T

18.61

c.1091C > T (p.P364L)/c.1843G > A (p.G615R)

8.48

Fabry

c.1078G > T (p.G360C)

0.48

E2 deletion

36.51

c.1078 G > T (p.G360C)

1.66

c.539 T > G (p.L180 W)

10.13

Gaucher

c.1448 T>C (p.L483P]/RecNciI^a

101.11

MPS I

c.1093C > G (p.L365 V)/c.590-2A > C

396.83

MPS II

c.142C > T (p.R48C)

–

c.1405C > G (p.P469A)

358.95

c.779C > G (p.P260R)

350.60

MPS 3B

c.926A > G (p.Y309C)/c.848C > T(p.P283L)

896.56

c.1693C > T (p.R565W)/c.1693C > T (p.R565W)

1139.71

c.1226dupA (p.N409Kfs52)/c.1350G > T(p.Q450H)

596.03

ML

c.G1543A (p.A515T)/ c.637-6 T > G

319.13