Luiz Carlos Santana da Silva

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Mucopolysaccharidoses (MPS) are rare lysosomal disorders caused by the deficiency of specific lysosomal enzymes responsible for glycosaminoglycan (GAG) degradation. Enzyme Replacement Therapy (ERT)(More)
Primary congenital hypothyroidism (PCH) has an incidence of approximately 1 in each 3000-4000 live births. In the last two decades, nearly 50 types of the distinct inactivating mutations have already(More)
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