Zobrazeno 1 - 10
of 151
pro vyhledávání: '"I. Tavares de Almeida"'
Autor:
C G Costa, E A Struys, A Bootsma, H J ten Brink, L Dorland, I Tavares de Almeida, M Duran, C Jakobs
Publikováno v:
Journal of Lipid Research, Vol 38, Iss 1, Pp 173-182 (1997)
A stable isotope dilution gas chromatography chemical ionization mass spectrometry (GC-CI-MS) method was developed for the quantitative profiling of plasma acylcarnitines. The clean-up procedure was comprised of a solid-phase cation exchange extracti
Externí odkaz:
https://doaj.org/article/d7e1b5f8b1c74ed1b02db7a0e4b597dd
Autor:
Paula Leandro, Elisa Leão-Teles, Ana Maria Minarelli Gaspar, Laura Vilarinho, A. Lopes, Esmeralda Martins, A. Luz, FV Ventura, Isabel Rivera, Ruben Ramos, Helena Fonseca, Margarida F. B. Silva, I. Tavares de Almeida, Luísa Diogo, H. Rocha
Publikováno v:
Clinical Genetics. 85:555-561
Medium-chain acyl-CoA dehydrogenase deficiency (MCADD) is the commonest genetic defect of mitochondrial fatty acid β-oxidation. About 60% of MCADD patients are homozygous for the c.985A>G (p.Lys329Glu) mutation in the ACADM gene (G985 allele). Herei
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::41f7ee134041b981945e57f006da1737
https://doi.org/10.1111/cge.12227
https://doi.org/10.1111/cge.12227
Autor:
Marinus Duran, Margarida F. B. Silva, J. P. N. Ruiter, Paula B.M. Luís, C. C. P. Aires, Lodewijk IJlst, Ronald J. A. Wanders, I. Tavares de Almeida
Publikováno v:
Journal of inherited metabolic disease, 31(2), 205-216. Springer Netherlands
Valproic acid (VPA; 2-n-propylpentanoic acid) is widely used as a major drug in the treatment of epilepsy and in the control of several types of seizures. Being a simple fatty acid, VPA is a substrate for the fatty acid beta-oxidation (FAO) pathway,
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfb9d3309432c356680d80212af20d21
https://doi.org/10.1007/s10545-008-0841-x
https://doi.org/10.1007/s10545-008-0841-x
Publikováno v:
Journal of Inherited Metabolic Disease, 29, 1, pp. 3-20
Journal of Inherited Metabolic Disease, 29, 3-20
Journal of Inherited Metabolic Disease, 29, 3-20
Contains fulltext : 49866.pdf (Publisher’s version ) (Closed access) Hyperhomocysteinaemia has been regarded as a new modifiable risk factor for atherosclerosis and vascular disease. Homocysteine is a branch-point intermediate of methionine metabol
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f41d3a898e7b321edf0ec1d536b5c91
https://hdl.handle.net/2066/49866
https://hdl.handle.net/2066/49866
Autor:
Severiano Silva, R. Vasconcelos, M. Duran, H. Caldeira Araujo, Nanda M. Verhoeven, C.A.J.M. Jakobs, I. Tavares de Almeida, W. Smit, Gajja S. Salomons, Helena Tomás
Publikováno v:
American Journal of Medical Genetics Part A. :122-127
Our study describes the adult clinical and biochemical spectrum of guanidinoacetate methyltransferase (GAMT) deficiency, a recently discovered inborn error of metabolism. The majority of the previous reports dealt with pediatric patients, in contrast
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::7dc2e2bd4426eab8c38a7cf65aaa0fff
https://doi.org/10.1002/ajmg.a.30226
https://doi.org/10.1002/ajmg.a.30226
Publikováno v:
Methylation-From DNA, RNA and Histones to Diseases and Treatment
Esse, R, Leandro, P, Rivera, I, Tavares de Almeida, I, Blom, H J & Castro, R 2012, Deciphering Protein Arginine Methylation in Mammals . in Methylation-From DNA, RNA and Histones to Diseases and Treatment . Biochemistry, Genetics and Molecular Biology, pp. 4 .
Esse, R, Leandro, P, Rivera, I, Tavares de Almeida, I, Blom, H J & Castro, R 2012, Deciphering Protein Arginine Methylation in Mammals . in Methylation-From DNA, RNA and Histones to Diseases and Treatment . Biochemistry, Genetics and Molecular Biology, pp. 4 .
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2eab6f93b6e1ef9617e6c066693749c0
https://research.vumc.nl/en/publications/be256d81-3b7c-4933-97ed-787b04434e61
https://research.vumc.nl/en/publications/be256d81-3b7c-4933-97ed-787b04434e61
Akademický článek
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Autor:
H.J. ten Brink, C.A.J.M. Jakobs, W.S. Guerand, I. Tavares de Almeida, C. G. Costa, E.A. Struys, Marinus Duran, U. Holwerda
Publikováno v:
Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Costa, C G, Guerand, W S, Struys, E A, Holwerda, U, ten Brink, H J, Tavares de Almeida, I, Duran, M & Jakobs, C A J M 2000, ' Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. ', Journal of Pharmaceutical and Biomedical Analysis, vol. 21, pp. 1215-1224 . https://doi.org/10.1016/S0731-7085(99)00235-6
Journal of Pharmaceutical and Biomedical Analysis, 21, 1215-1224. Elsevier
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Costa, C G, Guerand, W S, Struys, E A, Holwerda, U, ten Brink, H J, Tavares de Almeida, I, Duran, M & Jakobs, C A J M 2000, ' Quantitative analysis of urinary acylglycines for the diagnosis of beta-oxidation defects using GC-NCI-MS. ', Journal of Pharmaceutical and Biomedical Analysis, vol. 21, pp. 1215-1224 . https://doi.org/10.1016/S0731-7085(99)00235-6
Journal of Pharmaceutical and Biomedical Analysis, 21, 1215-1224. Elsevier
The analysis of acylglycines is an important biochemical tool for the diagnosis of inherited disorders of mitochondrial fatty acid P-oxidation. A stable isotope dilution gas chromatography negative chemical ionisation mass spectrometry method for the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c84f5623bb0a2d1f931aa0440ae57c62
https://doi.org/10.1016/s0731-7085(99)00235-6
https://doi.org/10.1016/s0731-7085(99)00235-6
Autor:
C.A.J.M. Jakobs, R. J. A. Wanders, Lodewijk IJlst, I. Tavares de Almeida, Margarida F. B. Silva, Marinus Duran, Jos P.N. Ruiter
Publikováno v:
Journal of inherited metabolic disease, 20(3), 397-400. Springer Netherlands
Journal of inherited metabolic disease, 20, 397-400. Springer Netherlands
Journal of inherited metabolic disease, 20, 397-400. Springer Netherlands
Valproic acid (2-n-propylpentanoic acid; VPA), a medium-chain branched fatty acid, has proved to be an effective antiepileptic drug. It has also been used widely in the symptomatic treatment of children for a variety of types of seizure. Hepatotoxici
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e057972e5e55dadb0a4402433f28d54f
https://doi.org/10.1023/a:1005398516208
https://doi.org/10.1023/a:1005398516208
Autor:
Dinamene, Santos, Santos, Dinamene, M Camila, Batoréu, Batoreu M, Camila, I, Tavares de Almeida, L, Davis Randall, M Luísa, Mateus, Mateus M, Luisa, Vanda, Andrade, Andrade, Vanda, Ruben, Ramos, Ramos, Ruben, Edite, Torres, Torres, Edite, Michael, Aschner, Aschner, Michael, A P, Marreilha dos Santos, A P, Marreilha Dos Santos
Publikováno v:
Toxicology. 314(1)
Manganese (Mn) can cause manganism, a neurological disorder similar to Parkinson' Disease (PD). The neurobehavioral and neuroinflammatory end-points in the Mn post exposure period have not been studied yet. Rats were injected on alternate days with 8
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61912acd7bc9b798f04926bf665518e9
https://pubmed.ncbi.nlm.nih.gov/24060432
https://pubmed.ncbi.nlm.nih.gov/24060432