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. 2019 Apr 25;42(1 Suppl 1):165–177. doi: 10.1590/1678-4685-GMB-2018-0159

Table 1. Lysosomal storage diseases diagnosed from 1982 to 2017 by the Reference Laboratory of Inborn Errors of Metabolism, Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Brazil.

Lysosomal storage disease Number of confirmed diagnoses
Mucopolysaccharidoses
Mucopolysaccharidosis type I 262
Mucopolysaccharidosis type II 413
Mucopolysaccharidosis type IIIA 67
Mucopolysaccharidosis type IIIB 104
Mucopolysaccharidosis type IIIC 68
Mucopolysaccharidosis type IVA 193
Mucopolysaccharidosis type IVB 13
Mucopolysaccharidosis type VI 281
Mucopolysaccharidosis type VII 22
Multiple sulfatase deficiency 9
Glycoproteinoses
Aspartylglucosaminuria 1
Fucosidosis 4
Galactosialidosis 19
α-Mannosidosis 9
Mucolipidosis II/III 41
Sialidosis 14
Sphingolipidoses
Fabry disease 109
Gaucher disease 756
GM1 gangliosidosis 181
GM2 Tay-Sachs disease (44% B1) 144
GM2 Sandhoff disease 30
Krabbe disease 109
Metachromatic leukodystrophy 164
Niemann-Pick type A/B disease 225
Other LDs
Lysosomal acid lipase deficiency 11
Neuronal ceroid lipofuscinosis 1 (CLN1) 6
Neuronal ceroid lipofuscinosis 2 (CLN2) 43
Niemann-Pick type C 161
Pompe disease 52
Salla disease 1
TOTAL 3512

* Classified as proposed by Kingma et al., 2015.