Molecular Biology
and Lysosomal Disease
Diagnosis Laboratory
Center for Research and Diagnosis of Genetic Diseases
Fabry Disease
Pompe Disease
Mucopolysaccharidosis type I
Mucopolysaccharidosis type II
Mucopolysaccharidosis type IV
Mucopolysaccharidosis type VI
Gaucher Disease
McArdle Disease
FKRP
Fibrodysplasia ossificans progressiva
NPHS2 (gene)
Hereditary Angioedema
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