Treatment of congenital disorders of glycosylation: An overview.
Mol Genet Metab
; 143(1-2): 108567, 2024 Aug 18.
Article
in En
| MEDLINE
| ID: mdl-39236565
ABSTRACT
While the identification and diagnosis of congenital disorders of glycosylation (CDG) have rapidly progressed, the available treatment options are still quite limited. Mostly, we are only able to manage the disease symptoms rather than to address the underlying cause. However, recent years have brought about remarkable advances in treatment approaches for some CDG. Innovative therapies, targeting both the root cause and resulting manifestations, have transitioned from the research stage to practical application. The present paper aims to provide a detailed overview of these exciting developments and the rising concepts that are used to treat these ultra-rare diseases.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Mol Genet Metab
/
Mol. genet. metab
/
Molecular genetics and metabolism
Journal subject:
BIOLOGIA MOLECULAR
/
BIOQUIMICA
/
METABOLISMO
Year:
2024
Document type:
Article
Country of publication: