Mucopolysaccharidosis and mucolipidosis / 한양의대학술지
Hanyang Medical Reviews
;
: 27-36, 2005.
Artículo
en Coreano
| WPRIM
| ID: wpr-96237
ABSTRACT
Mucopolysaccharidosis (MPS) and mucolipidosis(ML) belong to a group of rare genetic disorders of lysosomal enzymes and share some clinical manifestations. MPS is characterized by the accumulation of glycosaminoglycans (GAG) and results from the impaired function of one of 11 enzymes required for normal GAG degradation. ML, which is clinically similar to several forms of MPS, is caused by deficiency of Nacetylglucosamine-1-phosphotransferase activity. Therapeutic strategies for MPS, including enzyme replacement therapy and bone marrow transplantation, have been developed with some success. In this review, we discuss clinical feature, diagnostic methods, management and the present status of research on MPS and ML.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Trasplante de Médula Ósea
/
Mucopolisacaridosis
/
Terapia de Reemplazo Enzimático
/
Glicosaminoglicanos
/
Mucolipidosis
Idioma:
Coreano
Revista:
Hanyang Medical Reviews
Año:
2005
Tipo del documento:
Artículo
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