Systematic review: drug repositioning for congenital disorders of glycosylation (CDG)
S Brasil, M Allocca, SCM Magrinho, I Santos… - International Journal of …, 2022 - mdpi.com
Advances in research have boosted therapy development for congenital disorders of
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …
glycosylation (CDG), a group of rare genetic disorders affecting protein and lipid …
A decision-making approach for determining strategic priority of sustainable smart city services from citizens' perspective: A case study of Hong Kong
The development of sustainable smart city (SC) services is often carried out with limited
resources, but there is little discussion about the strategic priority of promoting SC …
resources, but there is little discussion about the strategic priority of promoting SC …
Embedding patient-centricity by collaborating with patients to transform the rare disease ecosystem
R Sharma, S Ahmed, J Campagnari, W Huff… - Pharmaceutical …, 2023 - Springer
What is patient-centricity? In some contexts, it has been associated with targeting therapies
based on biomarkers or enabling healthcare access. There has been a surge in patient …
based on biomarkers or enabling healthcare access. There has been a surge in patient …
Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health …
C Pascoal, I Ferreira, C Teixeira, E Almeida… - Orphanet Journal of …, 2022 - Springer
Background Congenital disorders of glycosylation (CDG) are a growing group of rare
genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which …
genetic disorders. The most common CDG is phosphomannomutase 2 (PMM2)-CDG which …
Semne neurologice evocatoare în tulburările congenitale ale glicozilării.
D Blăniţă, C Boiciuc, S Hadjiu… - Journal for Neurology & …, 2022 - search.ebscohost.com
SUMMARY Congenital Disorders of Glycosylation (CDG) are a group of metabolic errors
caused by pathogenic variants in genes encoding proteins involved in the glycosylation …
caused by pathogenic variants in genes encoding proteins involved in the glycosylation …