4 documents found, page 1 of 1
Galactose Epimerase Deficiency: Expanding the Phenotype
Dias Costa, F.; Ferdinandusse, S.; Pinto, C.; Dias, A.; Keldermans, L.; Quelhas, D.; Matthijs, G.; Mooijer, P.; Diogo, L.; Jaeken, J.; Garcia, P.Galactose 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...
Freitas, C.; Reis, V.; Silva, S.; Videira, P. A.; Morava, E.; Jaeken, J.Background: 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 ...
Clinical presentation and outcome in a series of 88 patients with the cblC defect
Fischer, S.; Huemer, M.; Baumgartner, M.; Deodato, F.; Ballhausen, D.; Boneh, A.; Burlina, A.B.; Cerone, R.; Garcia, P.; Gökçay, G.; Grünewald, S.The cblC defect is the most common inborn error of vitamin B12 metabolism. Despite therapeutic measures, the long-term outcome is often unsatisfactory. This retrospective multicentre study evaluates clinical, biochemical and genetic findings in 88 cblC patients. The questionnaire designed for the study evaluates clinical and biochemical features at both initial presentation and during follow up. Also the develo...
MAN1B1 Deficiency: An Unexpected CDG-II
Rymen, D.; Peanne, R.; Millón, M.; Race, V.; Sturiale, L.; Garozzo, D.; Mills, P.; Clayton, P.; Asteggiano, C.; Quelhas, D.; Cansu, A.; Martins, E.Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, due to impaired protein and lipid glycosylation. In the present study, exome sequencing was used to identify MAN1B1 as the culprit gene in an unsolved CDG-II patient. Subsequently, 6 additional cases with MAN1B1-CDG were found. All individuals presented slight facial dysmorphism, psychomotor retardation and truncal obesity. Gene...