43
TITLE: Diagnosis of a patient with a kinetic variant of medium and short-chain 3-hydroxyacyl-CoA dehydrogenase deficiency by newborn screening  Full Text
AUTHORS: Laura Vilarinho; Jorge Sales Marques; Hugo Rocha; Altina Ramos; Lurdes Lopes; Srinivas B Narayan; Michael J Bennett;
PUBLISHED: 2012, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 106, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
44
TITLE: A Rare Disease Patient Manager
AUTHORS: Pedro Lopes ; Rafael Mendonca; Hugo Rocha; Jorge Oliveira; Laura Vilarinho; Rosario Santos; Jose Luis Oliveira ;
PUBLISHED: 2012, SOURCE: 6th International Conference on Practical Applications of Computational Biology and Bioinformatics (PACBB) in 6TH INTERNATIONAL CONFERENCE ON PRACTICAL APPLICATIONS OF COMPUTATIONAL BIOLOGY & BIOINFORMATICS, VOLUME: 154
INDEXED IN: Scopus WOS DBLP CrossRef
45
TITLE: Al2O3/K2O-containing non-stoichiometric lithium disilicate-based glasses. A study of crystallisation kinetics  Full Text
AUTHORS: Hugo R Fernandes; Dilshat U Tulyaganov; José M F Ferreira;
PUBLISHED: 2012, SOURCE: J Therm Anal Calorim - Journal of Thermal Analysis and Calorimetry, VOLUME: 112, ISSUE: 3
INDEXED IN: CrossRef: 7
IN MY: ORCID
46
TITLE: Characterization of mitochondrial proteome in a severe case of ETF-QO deficiency  Full Text
AUTHORS: Rocha, H; Ferreira, R ; Carvalho, J; Vitorino, R ; Santa, C; Lopes, L; Gregersen, N; Vilarinho, L; Amado, F ;
PUBLISHED: 2011, SOURCE: JOURNAL OF PROTEOMICS, VOLUME: 75, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 17
47
TITLE: Four years of expanded newborn screening in Portugal with tandem mass spectrometry  Full Text
AUTHORS: Laura Vilarinho; Hugo Rocha; Carmen Sousa; Ana Marcao; Helena Fonseca; Mario Bogas; Rui Vaz Osorio;
PUBLISHED: 2010, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 33, ISSUE: SUPPL. 3
INDEXED IN: Scopus WOS CrossRef
48
TITLE: Effect of isomorphic substitutions on crystallization of mica and amphibole phases in glasses of the system SiO2-Al2O3-B2O3-CaO-MgO-Li2O-(K,Na)(2)O-F
AUTHORS: Pina, S ; Fernandes, HR; Agathopoulos, S; Tulyaganov, DU; Ferreira, JMF ;
PUBLISHED: 2005, SOURCE: 106th Annual Meeting of the American-Ceramic-Society in MELT CHEMISTRY, RELAXATION, AND SOLIDIFICATION KINETICS OF GLASSES, VOLUME: 170
INDEXED IN: Scopus WOS
50
TITLE: NeoScreen: A software application for MS/MS newborn screening analysis
AUTHORS: Pinheiro, M; Oliveira, JL ; Santos, MAS ; Rocha, H; Cardoso, ML; Vilarinho, L;
PUBLISHED: 2004, SOURCE: 5th International Symposium on Biological and Medical Data Analysis (ISBMDA) in BIOLOGICAL AND MEDICAL DATA ANALYSIS, PROCEEDINGS, VOLUME: 3337
INDEXED IN: Scopus WOS DBLP CrossRef: 4
Page 5 of 6. Total results: 51.