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Defeitos congénitos de glicosilação (cdg) em portugal: a ponta do iceberg
Quelhas, Dulce; Matthijs, G; Jaeken, J; Sousa, D; Laranjeira, F; Lacerda, L
Data: 2014
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Origem: Repositório Científico do Centro Hospitalar do Porto
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...
Data: 2013
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Origem: Repositório Científico do Centro Hospitalar do Porto
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