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| Issue Date | Title | Author(s) | Type | Access Type |
|---|---|---|---|---|
| 11-Apr-2017 | Acute liver failure related to inherited metabolic diseases in young children | Dias-Costa, F; Moinho, R; Ferreira, S; Garcia, P; Diogo, L; Gonçalves, I; Pinto, C | article |  |
| 1-Mar-2017 | 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, P | article | |
| Nov-2016 | Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency | Ribeiro, C; Macário, MC; Viegas, AT; Pratas, J; Santos, MJ; Simões, M; Mendes, C; Bacalhau, M; Garcia, P; Diogo, L; Grazina, M | article | |
| Sep-2016 | Phenotyping GABA transaminase deficiency: a case description and literature review | Louro, P; Ramos, L; Robalo, C; Cancelinha, C; Dinis, A; Veiga, R; Pina, R; Rebelo, O; Pop, A; Diogo, L; Salomons, GS; Garcia, P | article | |
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