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المؤلفون: Luísa F. Pereira, Teresa Tasso, Regina Portela, Aguinaldo Cabral, Filomena Eusébio, Bárbara Aguas, Jorge Campos, Leonor B. Gomes
المصدر: Acta Pediátrica Portuguesa; v. 27, n. 3 (1996); Pag. 615-617
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 27 No. 3 (1996); Pag. 615-617
Portuguese Journal of Pediatrics; vol. 27 n.º 3 (1996); Pag. 615-617
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 27, Iss 3 (2014)مصطلحات موضوعية: lcsh:R5-920, Rendu-Osler-Weber, lcsh:RJ1-570, Fístula artério-venosa pulmonar, lcsh:Pediatrics, lcsh:Medicine (General), Fístula artério-venosa cerebral
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::01c91dc21e29367ffe8eb0c1a1f40bf0
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المؤلفون: Aguinaldo Cabral, Teresa Tasso, Filomena Eusébio, Ana Gaspar, Joanne Charlton, Henriqueta Marques dos Santos, J. F. Moura-Nunes
المصدر: Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 32 No. 5 (2001); Pag. 293-299
Portuguese Journal of Pediatrics; vol. 32 n.º 5 (2001); Pag. 293-299
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 32, Iss 5 (2014)مصطلحات موضوعية: lcsh:R5-920, organomegália, lcsh:RJ1-570, mancha-cereja macular, displasia óssea generalizada, deficiência de [3-galactosidase, lcsh:Pediatrics, doença neurodegenerativa, dismorfia, lcsh:Medicine (General), Edema neonatal
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6f61d3dfe93d4045960ba3951a370a5d
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المؤلفون: Aguinaldo Cabral, Isabel T. Almeida, Teresa Tasso, Filomena Eusébio, Ana Gaspar
المصدر: Acta Pediátrica Portuguesa; v. 32, n. 3 (2001); Pag. 153-156
Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 32 No. 3 (2001); Pag. 153-156
Portuguese Journal of Pediatrics; vol. 32 n.º 3 (2001); Pag. 153-156
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Portuguese Journal of Pediatrics, Vol 32, Iss 3 (2014)مصطلحات موضوعية: lcsh:R5-920, Urinas escuras, lcsh:RJ1-570, restrição proteica, lcsh:Pediatrics, ocronose, mutações, lcsh:Medicine (General), artrite, ácido ascórbico
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94a3c87fb5b161e2acbb2786d9247246
http://actapediatrica.spp.pt/article/view/5261 -
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المؤلفون: Aguinaldo Cabral, Isabel Tavares Almeida, Teresa Tasso, Filomena Eusébio, Ana Gaspar, Ana Moreira, Ester Almeida
المصدر: Portuguese Journal of Pediatrics (former Acta Pediátrica Portuguesa); Vol. 32 No. 2 (2001); Pag. 83-90
Portuguese Journal of Pediatrics; vol. 32 n.º 2 (2001); Pag. 83-90
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
Agência para a Sociedade do Conhecimento (UMIC)-FCT-Sociedade da Informação
instacron:RCAAP
Acta Pediátrica Portuguesa; v. 32, n. 2 (2001); Pag. 83-90
Portuguese Journal of Pediatrics, Vol 32, Iss 2 (2014)مصطلحات موضوعية: lcsh:R5-920, lcsh:RJ1-570, dieta hipoproteica, Macrocrânea, distonia, atrofia fronto temporal, crise encefalopática, lcsh:Pediatrics, lcsh:Medicine (General)
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URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::61cb2a1819838c869355d18058401e5e
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المؤلفون: Esmeralda Martins, Teresa Tasso, Aguinaldo Cabral, Isabel Rivera, Isabel Tavares de Almeida, Maria Celeste Lechner, Uta Lichter-Konecki, D. S. Konecki, Filomena Eusébio, Laura Vilarinho, Paula Leandro, Carla Carmona, M.F. Almeida
المساهمون: Repositório da Universidade de Lisboa
المصدر: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAPمصطلحات موضوعية: Adult, Male, Biochemistry & Molecular Biology, Adolescent, Genotype, Phenylalanine hydroxylase, Phenylalanine, Endocrinology, Diabetes and Metabolism, Intelligence, Statistics as Topic, Population, Biology, Biochemistry, Endocrinology, Genotype-phenotype distinction, Hyperphenylalaninemia, Phenylketonurias, Genetics, medicine, Humans, Allele, Child, education, Molecular Biology, Intelligence Tests, Genetics & Heredity, education.field_of_study, Portugal, Infant, Phenylalanine Hydroxylase, medicine.disease, Phenotype, Medicine, Research & Experimental, Child, Preschool, Mutation, biology.protein, Female
وصف الملف: application/pdf
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المؤلفون: Filomena Eusébio, Marcela Fernandes Silva, Teresa Tasso, R Portela, C. Silveira, Aguinaldo Cabral, Marinus Duran, I. Tavares de Almeida
المصدر: Journal of Inherited Metabolic Disease. 14:259-262
مصطلحات موضوعية: Male, medicine.medical_specialty, Pediatrics, Diagnostico diferencial, Methylmalonic acid, Diagnosis, Differential, chemistry.chemical_compound, Internal medicine, Genetics, medicine, Humans, Mild form, Methylmalonic acidaemia, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Infant, Ketosis, medicine.disease, Ketoacidosis, Endocrinology, chemistry, Methylmalonic aciduria, Propionates, Propionic acidaemia, Methylmalonic Acid
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المؤلفون: R Portela, Paula Leandro, Filomena Eusébio, I T De Almeida, A. Matasovic, Aguinaldo Cabral, Teresa Tasso, Nenad Blau
المصدر: Advances in Experimental Medicine and Biology ISBN: 9781461362876
مصطلحات موضوعية: congenital, hereditary, and neonatal diseases and abnormalities, medicine.medical_specialty, business.industry, nutritional and metabolic diseases, Phenylalanine, Tetrahydrobiopterin, medicine.disease, Dihydropteridine Reductase, Hyperphenylalaninemia, Biopterin deficiency, Endocrinology, Internal medicine, medicine, Inborn errors metabolism, business, Tetrahydrobiopterin deficiency, Mass screening, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::deba6886de8abfcaa9703b4ccac4e689
https://doi.org/10.1007/978-1-4615-2960-6_53 -
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المؤلفون: Aguinaldo Cabral, Ana Moreira, Henriqueta Marques dos Santos, J. F. Moura-Nunes, Teresa Tasso, Filomena Eusébio, Regina Portela, Jorge Soares
المصدر: Ophthalmic Paediatrics and Genetics. 10:63-67
مصطلحات موضوعية: medicine.medical_specialty, Pathology, Biopsy, media_common.quotation_subject, Myoclonic Jerk, G(M1) Ganglioside, Gangliosidosis, Atrophy, Internal medicine, medicine, Edema, Humans, Gangliosidoses, Maxillofacial Development, Genetics (clinical), Skin, media_common, Pregnancy, Daughter, Psychomotor retardation, business.industry, Infant, Cherry-red spot, medicine.disease, body regions, Ophthalmology, Endocrinology, Pediatrics, Perinatology and Child Health, Hypertonia, Female, Bone Diseases, Psychomotor Disorders, medicine.symptom, business
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