Repositório Científico do Instituto Nacional de Saúde: Browsing DSpace

Issue Date	Title	Author(s)
2011	Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency	Rocha, H.; Ferreira, R.; Carvalho, J.; Vitorino, R.; Santa, C.; Lopes, L.; Gregersen, N.; Vilarinho, L.; Amado, F.
2011	Characterization of novel SLC6A8 variants with the use of splice-site analysis tools and implementation of a newly developed LOVD database	Betsalel, O.T.; Rosenberg, E.H.; Almeida, L.S.; Kleefstra, T.; Schwartz, C.E.; Valayannopoulos, V.; Abdul-Rahman, O.; Poplawski, N.; Vilarinho, L.; Wolf, P.; den Dunnen, J.T.; Jakobs, C.; Salomons, G.S.
2011	Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project	McHugh, D.M.; Cameron, C.A.; Abdenur, J.E.; Vilarinho, L.; Zakowicz, W.M.; et al.
2012	Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening	Vilarinho, L.; Sales Marques, J.; Rocha, H.; Ramos, A.; Lopes, L.; Narayan, S.B.; Bennett, M.J.
Jun-2012	"Double trouble” or digenic disorder in Complex I deficiency	Almeida, L.S.; Ferreira, M.; Nogueira, C.; Furtado, F.; Evangelista, T.; Santorelli, F.M.; Vilarinho, L.
Feb-2012	Methionine Adenosyltransferase I/III Deficiency in Portugal: High Frequency of a Dominantly Inherited Form in a Small Area of Douro High Lands	Martins, E.; Marcão, A.; Bandeira, A.; Fonseca, H.; Nogueira, C.; Vilarinho, L.
Nov-2010	Molecular characterization of five patients with homocystinuria due to severe methylenetetrahydrofolate reductase deficiency	Urreizti, R.; Moya-García, A. A.; Pino-Ángeles, A.; Cozar, M.; Langkilde, A.; Fanhoe, U.; Esteves, C.; Arribas, J.; Vilaseca, M.A.; Pérez-Dueñas, B.; Pineda, M.; González, V.; Artuch, R.; Baldellou, A.; Vilarinho, L.; Fowler, B.; Ribes, A.; Sánchez-Jiménez, F.; Grinberg, D.; Balcells, S.
2011	Molecular investigation of pediatric portuguese patients with sensorineural hearing loss	Nogueira, C.; Coutinho, M.; Pereira, C.; Tessa, A.; Santorelli, F.M.; Vilarinho, L.
2012	Mutations at the flavin binding site of ETF:QO yield a MADD-like severe phenotype in Drosophila	Alves, E.; Henriques, B.J.; Rogrigues, J.V.; Prudêncio, P.; Rocha, H.; Vilarinho, L.; Martinho, R.G.; Gomes, C.M.
2012	Nuclear-Mitochondrial Intergenomic Communication Disorders	Almeida, L.S.; Nogueira, C.; Vilarinho, L.
2011	Progressive cavitating leukoencephalopathy associated with respiratory chain complex I deficiency and a novel mutation in NDUFS1	Ferreira, M.; Torraco, A.; Rizza, T.; Fattori, F.; Meschini, M.C.; Castana, C.; Go, N.E.; Nargang, F.E.; Duarte, M.; Piemonte, F.; Dionisi-Vici, C.; Videira, A.; Vilarinho, L.; Santorelli, F.M.; Carrozzo, R.; Bertini, E.
2011	Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations	Ferreira, M.; Evangelista, T.; Almeida, L.S.; Martins, J.; Macario, M.C.; Martins, E.; Moleirinho, A.; Azevedo, L.; Vilarinho, L.; Santorelli, F.M.

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