Data/hora: 09/06/2024 11:31:43

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