المؤلفون: Pavlu-Pereira, H, Silva, MJ, Florindo, C, Sequeira, S, Ferreira, AC, Duarte, S, Rodrigues, AL, Janeiro, P, Oliveira, A, Gomes, D, Bandeira, A, Martins, E, Gomes, R, Soares, S, Tavares de Almeida, I, Vicente, JB, Rivera, I

مصطلحات موضوعية: Genotype–phenotype correlation, Lactic acidosis, Mutational analysis, Neurological dysfunction, Pyruvate dehydrogenase complex deficiency, HDE MTB

العلاقة: Orphanet J Rare Dis . 2020 Oct 22;15(1):298; http://hdl.handle.net/10400.17/4286Test

الإتاحة: https://doi.org/10.1186/s13023-020-01586-3Test
http://hdl.handle.net/10400.17/4286Test

المؤلفون: Wamelink, M.M.C. (Mirjam), Ramos, R.J.J.F. (Ruben J. J. F.), van den Elzen, A.P.M. (Annette P. M.), Ruijter, G.J.G. (George), Bonte, R. (Ramon), Diogo, L. (Luisa), Garcia, P. (Paula), Neves, N. (Nelson), Nota, B. (Benjamin), Haschemi, A. (Arvand), Tavares de Almeida, I. (Isabel), Salomons, G.S. (Gajja)

المصدر: Journal of Inherited Metabolic Disease vol. 38 no. 5, pp. 889-894

وصف الملف: application/pdf

العلاقة: http://repub.eur.nl/pub/84840Test; urn:hdl:1765/84840

الإتاحة: https://doi.org/10.1007/s10545-014-9809-1Test
http://repub.eur.nl/pub/84840Test

المؤلفون: 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.

المصدر: 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/S0731-7085Test(99)00235-6

العلاقة: https://research.vumc.nl/en/publications/d0258cfe-5346-4b5f-9490-3f17ace53db1Test

الإتاحة: https://doi.org/10.1016/S0731-7085Test(99)00235-6
https://research.vumc.nl/en/publications/d0258cfe-5346-4b5f-9490-3f17ace53db1Test

المؤلفون: Rivera, I, Leandro, P, Lichter-Konecki, U, Tavares de Almeida, I, Lechner, M C

مصطلحات موضوعية: Research Article

وصف الملف: text/html

العلاقة: http://jmg.bmj.com/cgi/content/short/35/4/301Test; http://dx.doi.org/10.1136/jmg.35.4.301Test

الإتاحة: https://doi.org/10.1136/jmg.35.4.301Test
http://jmg.bmj.com/cgi/content/short/35/4/301Test

المؤلفون: Flores, H, Costa, C, Vasconcelos, C, Barata, D, Marques, A, Santos Leite, M, Tavares de Almeida, I

مصطلحات موضوعية: Ácidos Gordos, 3-hidroxi-acil-CoA desidrogenase, Hiperglicinemia não Cetótica, β-oxidação mitocondrial, Criança, HDE UCI PED

العلاقة: Acta Pediatr Port. 1997; 28(4): 361-65; http://hdl.handle.net/10400.17/2186Test

الإتاحة: http://hdl.handle.net/10400.17/2186Test

المؤلفون: Costa, C G, Struys, E A, Bootsma, A, ten Brink, H J, Dorland, L, Tavares de Almeida, I, Duran, M, Jakobs, C

المصدر: Journal of Lipid Research ; volume 38, issue 1, page 173-182 ; ISSN 0022-2275

مصطلحات موضوعية: Cell Biology, Endocrinology, Biochemistry

الإتاحة: https://doi.org/10.1016/s0022-2275Test(20)37286-2
https://api.elsevier.com/content/article/PII:S0022227520372862?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0022227520372862?httpAccept=text/plainTest

المؤلفون: Riviera I, Angelo S, Pavlu-Pereira H, Silva MJ, Tavares de Almeida I, Petković-Ramadža, Danijela, Sarnavka, Vlado, Vuković, Jurica, Fumić, Ksenija, Krželj, Vjekoslav, Lozić, Bernarda, Puseljić, Silvija, Barić Ivo

مصطلحات موضوعية: education, classic galactosemia, Croatia, mutational spectrum, health care economics and organizations, humanities

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=57a035e5b1ae::9aba6cf40f98305553c9a4af61563f74Test
https://www.bib.irb.hr/889345Test

المؤلفون: Mendes, M.I.S., Smith, D.E.C., Vicente, J.B., Tavares de Almeida, I., Ben-Omran, T., Salomons, G., Rivera, I.A., Leandro, P., Blom, H.J.

المصدر: Mendes , M I S , Smith , D E C , Vicente , J B , Tavares de Almeida , I , Ben-Omran , T , Salomons , G , Rivera , I A , Leandro , P & Blom , H J 2015 , ' Small aminothiol compounds improve the function of Arg to Cys variant proteins: effect on the human cystathionine beta-synthase p.R336C ' , Human Molecular Genetics , vol. 24 , no. 25 , pp. 7339-7348 . https://doi.org/10.1093/hmg/ddv431Test

العلاقة: https://research.vumc.nl/en/publications/5fe832ea-2e70-4522-8bae-11aa46a59ddeTest

الإتاحة: https://doi.org/10.1093/hmg/ddv431Test
https://research.vumc.nl/en/publications/5fe832ea-2e70-4522-8bae-11aa46a59ddeTest

المؤلفون: Ventura, FV, Violante, S, Jorge, AM, IJlst, L, Gaspar, MM, van Roermund, CWT, Cruz, MEM, Soveral, G, Wanders, RJA, Leandro, P, Tavares de Almeida, I

وصف الملف: application/pdf

العلاقة: BOOK OF ABSTRACTS, p. 63-63; http://hdl.handle.net/10451/21998Test

الإتاحة: http://hdl.handle.net/10451/21998Test

المؤلفون: Tavares de Almeida, I, Ventura, F

وصف الملف: application/pdf

العلاقة: http://hdl.handle.net/10451/22000Test

الإتاحة: http://hdl.handle.net/10451/22000Test