| Nome: | Descrição: | Tamanho: | Formato: | |
|---|---|---|---|---|
| 82.9 KB | Adobe PDF |
Orientador(es)
Resumo(s)
Introduction: Mucopolysaccharidosis (MPSs) and oligosaccharidosis, two subgroups of lysosomal storage disorders (LSDs), face diagnostic challenges due to their wide spectrum of clinical presentations and overlapping symptoms.
One of the oligosaccharidose is α-mannosidosis, an extremely rare and often undiagnosed disorder. It is characterized by a deficiency in the enzymatic activity of α-mannosidase, which is responsible for cleaving mannose from N-linked oligosaccharides. This study aimed to investigate the activity of α-mannosidase in dried blood spot (DBS) samples that had undergone screening for MPSs.
Descrição
Palavras-chave
Mucopolysaccharidosis (MPSs) Lysosomal Storage Disorders Oligosaccharidosis α-mannosidase Doenças Genéticas