A useful routine for biochemical detection and diagnosis of mucopolysaccharidoses
AUTOR(ES)
Leistner, Sandra
DATA DE PUBLICAÇÃO
2010
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.
ASSUNTO(S)
mucopolissacaridoses : bioquimica : diagnostico
ACESSO AO ARTIGO
http://hdl.handle.net/10183/23469Documentos Relacionados
- PCR-based detection of Trypanosoma cruzi useful for specific diagnosis of human Chagas' disease.
- Development of a Real-Time PCR Assay for Detection of Plasmodium falciparum, Plasmodium vivax, and Plasmodium ovale for Routine Clinical Diagnosis
- Seminested PCR for Diagnosis of Candidemia: Comparison with Culture, Antigen Detection, and Biochemical Methods for Species Identification
- Routine EBM staff meetings are popular and useful
- New Enzyme Immunoassays for Sensitive Detection of Circulating Candida albicans Mannan and Antimannan Antibodies: Useful Combined Test for Diagnosis of Systemic Candidiasis