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1دورية أكاديمية
المؤلفون: Luengo-Pérez, LM, Fernández-Bueso, M, Ambrojo, A, Guijarro, M, Ferreira, AC, Pereira-da-Silva, L, Moreira-Rosário, A, Faria, A, Calhau, C, Daly, A, MacDonald, A, Rocha, JC
مصطلحات موضوعية: Anthropometry, Biomarkers, Body Composition, Body Mass Index, Cardiovascular Diseases* / etiology, Humans, Phenylketonurias* / complications, HDE MTB
العلاقة: Nutrients . 2023 Dec 18;15(24):5133; http://hdl.handle.net/10400.17/4791Test
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2دورية أكاديمية
المؤلفون: Alves, AC, Miranda, B, Moldovan, O, Espírito Santo, R, Gouveia Silva, R, Soares Cardoso, S, Diogo, L, Seidi, M, Sequeira, S, Bourbon, M
مصطلحات موضوعية: HDL cholesterol, LDL cholesterol, Hypoalphalipoproteinemia, Hypobetalipoproteinemia, Rare dyslipidaemias, HDE MTB
العلاقة: Front Genet . 2023 Apr 17;13:1088040.; http://hdl.handle.net/10400.17/4601Test
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3دورية أكاديمية
المؤلفون: Pena, MJ, Costa, R, Rodrigues, I, Martins, S, Guimarães, JT, Faria, A, Calhau, C, Rocha, JC, Borges, N
مصطلحات موضوعية: GLP-1, Amino acids, Glycomacropeptide, Metabolism, Phenylketonuria, HDE MTB
العلاقة: Int J Mol Sci . 2021 Sep 8;22(18):9731; http://hdl.handle.net/10400.17/4359Test
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4دورية أكاديمية
المؤلفون: Quelhas, D, Martins, E, Azevedo, L, Bandeira, A, Diogo, L, Garcia, P, Sequeira, S, Ferreira, AC, Teles, EL, Rodrigues, E, Fortuna, AM, Mendonça, C, Fernandes, HC, Medeira, A, Gaspar, A, Janeiro, P, Oliveira, A, Laranjeira, F, Ribeiro, I, Souche, E, Race, V, Keldermans, L, Matthijs, G, Jaeken, J
مصطلحات موضوعية: CDG, PMM2 genotype, Congenital disorder/glycosylation, Phenotype, Transferrin, HDE MTB
العلاقة: J Pediatr . 2021 Apr;231:148-156.; http://hdl.handle.net/10400.17/4292Test
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5دورية أكاديمية
المؤلفون: Ferreira, AC, Alves, AC, Medeiros, AM, Padeira, G, Bourbon, M
مصطلحات موضوعية: Hyperlipoproteinemia Type II/diagnosis, Hyperlipoproteinemia Type II/ diet therapy, Hyperlipoproteinemia Type II/drug therapy, Hyperlipoproteinemia Type II/genetics, Hypercholesterolemia, Intestinal Absorption/genetics, Mutation, Risk Factors, Child, Preschool, HDE MTB
العلاقة: Port J Pediatr 2021;52:317-22; http://hdl.handle.net/10400.17/4279Test
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6دورية أكاديمية
المؤلفون: Sequeira, S
مصطلحات موضوعية: Brain Diseases, Metabolic, Inborn/etiology, Carbonic Anhydrases/deficiency, Carbonic Anhydrases/ genetics, Infant, Newborn, Hyperammonemia/therapy, Hyperammonemia/etiology, Case Report, HDE MTB
العلاقة: Port J Pediatr 2021;52:117-21; http://hdl.handle.net/10400.17/4244Test
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7دورية أكاديمية
المؤلفون: Ferreira, F, Azevedo, L, Neiva, R, Sousa, C, Fonseca, H, Marcão, A, Rocha, H, Carmona, C, Ramos, S, Bandeira, A, Martins, E, Campos, T, Rodrigues, E, Garcia, P, Diogo, L, Ferreira, AC, Sequeira, S, Silva, F, Rodrigues, L, Gaspar, A, Janeiro, P, Amorim, A, Vilarinho, L
مصطلحات موضوعية: Portuguese population, Biochemical and genetic findings, Haplotypic study, Mutation spectrum, Phenylketonuria, HDE MTB
العلاقة: Mol Genet Genomic Med . 2021 Mar;9(3):e1559; http://hdl.handle.net/10400.17/4072Test
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8دورية أكاديمية
المؤلفون: Barbosa-Gouveia, S, Vázquez-Mosquera, ME, González-Vioque, E, Álvarez, JV, Chans, R, Laranjeira, F, Martins, E, Ferreira, AC, Avila-Alvarez, A, Couce, ML
مصطلحات موضوعية: Differential diagnosis, Genetic diagnosis, Inborn errors of metabolism, HDE MTB
العلاقة: Genes (Basel) . 2021 Aug 19;12(8):1262; http://hdl.handle.net/10400.17/4008Test
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9دورية أكاديمية
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
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10
المؤلفون: Ana Catarina Alves, Beatriz Miranda, Oana Moldovan, Raquel Espírito Santo, Raquel Gouveia Silva, Sandra Soares Cardoso, Luísa Diogo, Mónica Seidi, Silvia Sequeira, Mafalda Bourbon
مصطلحات موضوعية: Hypoalphalipoproteinemia, Rare dyslipidaemias, HDE MTB, HDL cholesterol, LDL cholesterol, Genetics, Molecular Medicine, Hypobetalipoproteinemia, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9f3cac89684e5d15f1196ea1e9d5a5b0Test
https://hdl.handle.net/10400.17/4601Test