1.
Mol Genet Metab Rep
; 38: 101035, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38130891
RESUMO
Inherited deficiency of phosphomannomutase 2 (PMM2) (aka PMM2-CDG) is the most common congenital disorders of glycosylation (CDG) and has no cure. With debilitating morbidity and significant mortality, it is imperative to explore novel, safe, and effective therapies for the disease. Our Proof-of-Concept study showed that AAV9-PMM2 infection of patient fibroblasts augmented PMM2 expression and improved glycosylation. Thus, AAV9-PMM2 gene replacement is a promising therapeutic strategy for PMM2-CDG patients.
2.
QJM
; 112(3): 243-244, 2019 03 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30496591
3.
QJM
; 111(2): 125-127, 2018 Feb 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29301024
4.
Zhonghua Yan Ke Za Zhi
; 24(5): 279-81, 1988 Sep.
Artigo
em Chinês
| MEDLINE
| ID: mdl-2853040