Skip to Main Content (Press Enter)

Logo CNR
  • ×
  • Home
  • Persone
  • Pubblicazioni
  • Strutture
  • Competenze

UNI-FIND
Logo CNR

|

UNI-FIND

cnr.it
  • ×
  • Home
  • Persone
  • Pubblicazioni
  • Strutture
  • Competenze
  1. Pubblicazioni

Congenital disorders of glycosylation: narration of a story through its patents

Articolo
Data di Pubblicazione:
2023
Abstract:
Congenital disorders of glycosylation are a group of more than 160 rare genetic defects in protein and lipid glycosylation. Since the first clinical report in 1980 of PMM2-CDG, the most common CDG worldwide, research made great strides, but nearly all of them are still missing a cure. CDG diagnosis has been at a rapid pace since the introduction of whole-exome/whole-genome sequencing as a diagnostic tool. Here, we retrace the history of CDG by analyzing all the patents associated with the topic. To this end, we explored the Espacenet database, extracted a list of patents, and then divided them into three major groups: (1) Drugs/therapeutic approaches for CDG, (2) Drug delivery tools for CDG, (3) Diagnostic tools for CDG. Despite the enormous scientific progress experienced in the last 30 years, diagnostic tools, drugs, and biomarkers are still urgently needed.
Tipologia CRIS:
01.01 Articolo in rivista
Keywords:
Intellectual property; Patent; Drug Discovery; Diagnosis; Congenital disorder(s) of glycosylation; CDG; Rare disease
Elenco autori:
Andreotti, Giuseppina; Cubellis, MARIA VITTORIA
Autori di Ateneo:
ANDREOTTI GIUSEPPINA
Link alla scheda completa:
https://iris.cnr.it/handle/20.500.14243/458133
Pubblicato in:
ORPHANET JOURNAL OF RARE DISEASES
Journal
  • Utilizzo dei cookie

Realizzato con VIVO | Designed by Cineca | 26.5.0.0 | Sorgente dati: PREPROD (Ribaltamento disabilitato)