Advances in the diagnosis and treatment of phosphomannomutase 2 deficiency / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
; (12): 223-228, 2023.
Artigo
em Chinês
| WPRIM (Pacífico Ocidental)
| ID: wpr-971064
Biblioteca responsável:
WPRO
ABSTRACT
Phosphomannomutase 2 deficiency is the most common form of N-glycosylation disorders and is also known as phosphomannomutase 2-congenital disorder of glycosylation (PMM2-CDG). It is an autosomal recessive disease with multi-system involvements and is caused by mutations in the PMM2 gene (OMIM 601785), with varying severities in individuals. At present, there is still no specific therapy for PMM2-CDG, and early identification, early diagnosis, and early treatment can effectively prolong the life span of pediatric patients. This article reviews the advances in the diagnosis and treatment of PMM2-CDG.
Texto completo:
Disponível
Base de dados:
WPRIM (Pacífico Ocidental)
Assunto principal:
Defeitos Congênitos da Glicosilação
/
Mutação
Limite:
Criança
/
Humanos
Idioma:
Chinês
Revista:
Chinese Journal of Contemporary Pediatrics
Ano de publicação:
2023
Tipo de documento:
Artigo