Maria Isabel Ginestal Tavares Almeida


AuthID: R-000-BQS

Confirmed Publications: 46



31
TITLE: The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients  Full Text
AUTHORS: Rivera, I ; Cabral, A; Almeida, M; Leandro, P ; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E ; Lechner, MC; de Almeida, IT ; Konecki, DS; Lichter Konecki, U;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
32
TITLE: The V388M mutation results in a kinetic variant form of phenylalanine hydroxylase  Full Text
AUTHORS: Leandro, P ; Rivera, I ; Lechner, MC; de Almeida, IT ; Konecki, D;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
33
TITLE: Branched-Chain AA Catabolism Disease 19 Case Report [Doenças dos aminoácidos de cadeia ramificada]
AUTHORS: Cabral, A; Portela, R; Tasso, T; Eusebio, F; De Almeida, IT ; Silveira, C;
PUBLISHED: 1998, SOURCE: Acta Medica Portuguesa, VOLUME: 11, ISSUE: 7
INDEXED IN: Scopus
IN MY: ORCID
34
TITLE: Carnitine palmitoyltransferase II specificity towards beta-oxidation intermediates - Evidence for a reverse carnitine cycle in mitochondria  Full Text
AUTHORS: Ventura, FV; Ijlst, L; Ruiter, J; Ofman, R; Costa, CG; Jakobs, C; Duran, M; De Almeida, IT ; Bieber, LL; Wanders, RJA;
PUBLISHED: 1998, SOURCE: EUROPEAN JOURNAL OF BIOCHEMISTRY, VOLUME: 253, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
35
TITLE: Population genetics of hyperphenylalaninaemia resulting from phenylalanine hydroxylase deficiency in Portugal
AUTHORS: Rivera, I ; Leandro, P ; Lichter Konecki, U; de Almeida, IT ; Lechner, MC;
PUBLISHED: 1998, SOURCE: JOURNAL OF MEDICAL GENETICS, VOLUME: 35, ISSUE: 4
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
36
TITLE: Simultaneous analysis of plasma free fatty acids and their 3-hydroxy analogs in fatty acid beta-oxidation disorders
AUTHORS: Costa, CG; Dorland, L; Holwerda, U; de Almeida, IT ; Poll The, BT; Jakobs, C; Duran, M;
PUBLISHED: 1998, SOURCE: CLINICAL CHEMISTRY, VOLUME: 44, ISSUE: 3
INDEXED IN: Scopus WOS
IN MY: ORCID
37
TITLE: Relative frequency of IVS10nt546 mutation in a Portuguese phenylketonuric population  Full Text
AUTHORS: Rivera, I; Leandro, P ; LichterKonecki, U; deAlmeida, IT ; Lechner, MC;
PUBLISHED: 1997, SOURCE: HUMAN MUTATION, VOLUME: 9, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
38
TITLE: Inhibitory effect of 3-hydroxyacyl-CoAs and other long-chain fatty acid beta-oxidation intermediates on mitochondrial oxidative phosphorylation
AUTHORS: Ventura, FV; Ruiter, JPN; Ijlst, L; deAlmeida, IT ; Wanders, RJA;
PUBLISHED: 1996, SOURCE: 33rd Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 19, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
39
TITLE: Medium-chain triglyceride loading has no diagnostic power in long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency
AUTHORS: Costa, CG; deAlmeida, IT ; Jakobs, C; Duran, M; PollThe, BT;
PUBLISHED: 1996, SOURCE: JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 19, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
40
TITLE: Organic acid profiles resembling a beta-oxidation defect in two patients with coeliac disease
AUTHORS: Costa, CG; Verhoeven, NM; Kneepkens, CMF; Douwes, AC; Wanders, RJA; deAlmeida, IT ; Duran, M; Jakobs, C;
PUBLISHED: 1996, SOURCE: 33rd Annual Meeting of the Society-for-the-Study-of-Inborn-Errors-of-Metabolism in JOURNAL OF INHERITED METABOLIC DISEASE, VOLUME: 19, ISSUE: 2
INDEXED IN: Scopus WOS CrossRef
IN MY: ORCID
Página 4 de 5. Total de resultados: 46.

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