5 documents found, page 1 of 1
Congenital Disorders of Glycosylation in Portugal—Two Decades of Experience
Quelhas, D; Martins, E; Azevedo, L; Bandeira, A; Diogo, L; Garcia, P; Sequeira, S; Ferreira, AC; Teles, EL; Rodrigues, E; Fortuna, AM; Mendonça, CObjective: To describe the clinical, biochemical, and genetic features of both new and previously reported patients with congenital disorders of glycosylation (CDGs) diagnosed in Portugal over the last 20 years. Study design: The cohort includes patients with an unexplained multisystem or single organ involvement, with or without psychomotor disability. Serum sialotransferrin isoforms and, whenever necessary, a...
SLC35A2-CDG: Novel variant and review
Quelhas, D; Correia, J; Jaeken, J; Azevedo, L; Lopes-Marques, M; Bandeira, A; Keldermans, L; Matthijs, G; Sturiale, L; Martins, ESLC35A2 encodes the X-linked transporter that carries uridine diphosphate (UDP)-galactose from the cytosol to the lumen of the Golgi apparatus and the endoplasmic reticulum. Pathogenic variants have been associated to a congenital disorder of glycosylation (CDG) with epileptic encephalopathy as a predominant feature. Among the sixty five patients described so far, a strong gender bias is observed as only seven ...
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias-Costa, F; Ferdinandusse, S; Pinto, C; Dias, A; Keldermans, L; Quelhas, D; Matthijs, G; Mooijer, PA; Diogo, L; Jaeken, J; Garcia, PGalactose epimerase deficiency is an inborn error of metabolism due to uridine diphosphate-galactose-4'-epimerase (GALE) deficiency. We report the clinical presentation, genetic and biochemical studies in two siblings with generalized GALE deficiency.Patient 1: The first child was born with a dysmorphic syndrome. Failure to thrive was noticed during the first year. Episodes of heart failure due to dilated cardi...
Public and patient involvement in needs assessment and social innovation: a peo...
de Freitas, C; dos Reis, V; Silva, S; Videira, PA; Morava, E; Jaeken, JBackground: Public and patient involvement in the design of people-centred care and research is vital for communities whose needs are underserved, as are people with rare diseases. Innovations devised collectively by patients, caregivers, professionals and other members of the public can foster transformative change toward more responsive services and research. However, attempts to involve lay and professional ...
Defeitos congénitos de glicosilação (cdg) em portugal: a ponta do iceberg
Quelhas, Dulce; Matthijs, G; Jaeken, J; Sousa, D; Laranjeira, F; Lacerda, L