3 documents found, page 1 of 1
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1‐CD...
Altassan, Ruqaiah; Radenkovic, Silvia; Edmondson, Andrew C.; Barone, Rita; Brasil, Sandra; Cechova, Anna; Coman, David; Donoghue, SarahPhosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosylation, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease. Most patients present as infants with cleft palate, liver function abnormalities and hypoglycemia, but some pat...
New Insights into Immunological Involvement in Congenital Disorders of Glycosyl...
Francisco, Rita; Pascoal, Carlota; Marques da Silva, Dorinda; Brasil, Sandra; Pimentel-Santos, Fernando M.; Altassan, Ruqaiah; Jaeken, JaakCongenital disorders of glycosylation (CDG) are rare diseases with variable phenotypes and severity. Immunological involvement remains a largely uncharted topic in CDG, mainly due to lack of robust data. To better characterize immune-related manifestations’ prevalence, relevance, and quality-of-life (QoL) impact, we developed electronic questionnaires targeting (1) CDG patients and (2) the general “healthy” pop...
Artificial intelligence (AI) in rare diseases: is the future brighter?
Brasil, Sandra; Pascoal, Carlota; Francisco, Rita; Ferreira, Vanessa dos Reis; Videira, P A; Valadão Matias, GonçaloThe amount of data collected and managed in (bio)medicine is ever-increasing. Thus, there is a need to rapidly and efficiently collect, analyze, and characterize all this information. Artificial intelligence (AI), with an emphasis on deep learning, holds great promise in this area and is already being successfully applied to basic research, diagnosis, drug discovery, and clinical trials. Rare diseases (RDs), wh...