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.
Article
de Zh
| WPRIM
| ID: wpr-971064
Bibliothèque responsable:
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.
Mots clés
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Troubles congénitaux de la glycosylation
/
Mutation
Limites du sujet:
Child
/
Humans
langue:
Zh
Texte intégral:
Chinese Journal of Contemporary Pediatrics
Année:
2023
Type:
Article