11
TITLE: Darier disease: first molecular study of a Portuguese family
AUTHORS: Almeida, A; Lobo, MD; Moura, C; Rivera, I;
PUBLISHED: 2019, SOURCE: HELIYON, VOLUME: 5, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
12
TITLE: Molecular basis and clinical presentation of classic galactosemia in a Croatian population
AUTHORS: Ramadza, DP; Sarnavka, V; Vukovic, J; Fumic, K; Krzelj, V; Lozic, B; Puseljic, S; Pereira, H; Silva, MJ; de Almeida, IT; Baric, I; Rivera, I;
PUBLISHED: 2018, SOURCE: JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, VOLUME: 31, ISSUE: 1
INDEXED IN: Scopus WOS CrossRef: 4
IN MY: ORCID
13
TITLE: Risk Perception Of Adverse Drug Reactions By Health Students-Influence Of Undergraduate Education
AUTHORS: Carvalho, I; Joaquim, J; Matos, C; Pires, T;
PUBLISHED: 2018, SOURCE: 18th ISoP Annual Meeting on Pharmacovigilance without Borders in DRUG SAFETY, VOLUME: 41, ISSUE: 11
INDEXED IN: WOS
14
TITLE: Sweet and sour: an update on classic galactosemia  Full Text
AUTHORS: Coelho, AI; Rubio Gozalbo, ME; Vicente, JB; Rivera, I;
PUBLISHED: 2017, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 40, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 90
IN MY: ORCID
15
TITLE: Complex genetic findings in a female patient with pyruvate dehydrogenase complex deficiency: Null mutations in the PDHX gene associated with unusual expression of the testis-specific PDHA2 gene in her somatic cells  Full Text
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; de Almeida, IT; Rivera, I;
PUBLISHED: 2016, SOURCE: GENE, VOLUME: 591, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
16
TITLE: Data supporting the co-expression of PDHA1 gene and of its paralogue PDHA2 in somatic cells of a family
AUTHORS: Pinheiro, A; Silva, MJ; Pavlu Pereira, H; Florindo, C; Barroso, M; Marques, B; Correia, H; Oliveira, A; Gaspar, A; Tavares de Almeida, I; Rivera, I;
PUBLISHED: 2016, SOURCE: Data in Brief, VOLUME: 9
INDEXED IN: Scopus CrossRef
IN MY: ORCID
17
TITLE: Sustained drug release by contact lenses for glaucoma treatment-A review  Full Text
AUTHORS: Carvalho, IM; Marques, CS; Oliveira, RS; Coelho, PB; Costa, PC ; Ferreira, DC ;
PUBLISHED: 2015, SOURCE: JOURNAL OF CONTROLLED RELEASE, VOLUME: 202
INDEXED IN: Scopus WOS CrossRef: 119
18
TITLE: Functional correction by antisense therapy of a splicing mutation in the GALT gene
AUTHORS: Ana I Coelho; Silvia Lourenco; Matilde Trabuco; Maria Joao Silva; Anabela Oliveira; Ana Gaspar; Luisa Diogo; Isabel Tavares de Almeida; Joao B Vicente; Isabel Rivera;
PUBLISHED: 2015, SOURCE: EUROPEAN JOURNAL OF HUMAN GENETICS, VOLUME: 23, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
19
TITLE: The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders  Full Text
AUTHORS: Sperl, W; Fleuren, L; Freisinger, P; Haack, T; Ribes, A; Feichtinger, R; Rodenburg, R; Zimmermann, F; Koch, J; Rivera, I; Prokisch, H; Smeitink, J; Mayr, J;
PUBLISHED: 2015, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 38, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
20
TITLE: Influence of glioma cells on a new co-culture in vitro blood-brain barrier model for characterization and validation of permeability  Full Text
AUTHORS: Barbara Mendes; Claudia Marques; Isabel Carvalho; Paulo Costa ; Susana Martins; Domingos Ferreira ; Bruno Sarmento ;
PUBLISHED: 2015, SOURCE: INTERNATIONAL JOURNAL OF PHARMACEUTICS, VOLUME: 490, ISSUE: 1-2
INDEXED IN: Scopus WOS CrossRef
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