Data/hora: 09/06/2024 15:33:16

Provedor de dados: | 74
País: | Brazil
Título: | A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
Autores: | Leistner,Sandra; Giugliani,Roberto.
Data: | 1998-03-01
Ano: | 1998
Resumo: | Mucopolysaccharidoses (MPS) constitute, owing to their biochemical, genetical and clinical characteristics, a large and heterogeneous subgroup among the lysosomal storage diseases (LSD). They are caused by deficiency of specific enzymes, which are responsible for glycosaminoglycan (GAG) breakdown during different steps of its degradation pathway. MPS are responsible for about 32% of inborn errors of metabolism (IEM) and 54% of LSD identified in our laboratory (Regional Laboratory of Inborn Errors of Metabolism (RLIEM), Medical Genetics Unit, Hospital de Clínicas in Porto Alegre), which is a reference center for LSD diagnosis in Brazil. Therefore, we decided to set up a specific laboratory routine for detection and differential diagnosis of MPS in patients with clinical features suggestive of this group of disorders
Tipo: | Info:eu-repo/semantics/article
Idioma: | Inglês
Identificador: | http://www.scielo.br/scielo.php?script=sci_arttext&pid=S1415-47571998000100028
Editor: | Sociedade Brasileira de Genética
Relação: | 10.1590/S1415-47571998000100028
Formato: | text/html
Fonte: | Genetics and Molecular Biology  v.21 n.1 1998
Fonte: | info:eu-repo/semantics/openAccess