المؤلفون: Maria Miguel Gonçalves, Ana Marcão, Carmen Sousa, Célia Nogueira, Helena Fonseca, Hugo Rocha, Laura Vilarinho

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 25 (2024)

مصطلحات موضوعية: Portuguese neonatal screening program, neonatal screening, inborn errors of metabolism (IEM), second-tier testing (2TT), Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/1/25; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/3a1cc85a6a2145ff98cd22697fddbe32

المؤلفون: Maria José Costeira, Patrício Costa, Susana Roque, Ivone Carvalho, Laura Vilarinho, Joana Almeida Palha

المصدر: International Journal of Neonatal Screening, Vol 10, Iss 1, p 16 (2024)

مصطلحات موضوعية: neonatal screening, congenital hypothyroidism, thyroid hormones, iodine, Pediatrics, RJ1-570

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2409-515X/10/1/16; https://doaj.org/toc/2409-515X

URL الوصول: https://doaj.org/article/5d5808367a8e49a88ec226af05399338

المؤلفون: Catarina Maria Almeida, Esmeralda Rodrigues, Teresa Almeida Campos, Laura Vilarinho, Elisa Leão Teles

المصدر: Egyptian Journal of Medical Human Genetics, Vol 24, Iss 1, Pp 1-4 (2023)

مصطلحات موضوعية: Mitochondrial disease, Mitochondrial translation optimization 1, Lactic acidosis, Medicine (General), R5-920, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2090-2441

URL الوصول: https://doaj.org/article/523b6cb7a83a4ea8afe344e06b693799

المؤلفون: Maria Lopes-Pereira, Anna Quialheiro, Patrício Costa, Susana Roque, Nadine Correia Santos, Margarida Correia-Neves, Ana Goios, Ivone Carvalho, Tim I M Korevaar, Laura Vilarinho, Joana Almeida Palha

المصدر: European Thyroid Journal, Vol 11, Iss 1, Pp 1-9 (2023)

مصطلحات موضوعية: iodine, pregnancy, newborn, obstetric outcomes, neonatal outcomes, Diseases of the endocrine glands. Clinical endocrinology, RC648-665

وصف الملف: electronic resource

Relation: https://etj.bioscientifica.com/view/journals/etj/11/1/ETJ-21-0035.xml; https://doaj.org/toc/2235-0802

URL الوصول: https://doaj.org/article/c8904279182b4ff8b540966907453412

المؤلفون: Diogo Fernandes da Rocha, Laura Vilarinho, Pedro Louro

المصدر: Revista Portuguesa de Medicina Geral e Familiar, Vol 39, Iss 1 (2023)

مصطلحات موضوعية: Drepanocitose, Heterozigoto HbS, Portador, Rastreio neonatal, Comunicação, Medicine (General), R5-920

وصف الملف: electronic resource

Relation: https://rpmgf.pt/ojs/index.php/rpmgf/article/view/13435; https://doaj.org/toc/2182-5181

URL الوصول: https://doaj.org/article/e06f2b8ab4f8434ebeb532057b4346e2

المؤلفون: Carla A. Lopes, Marta Duarte, Susana Prazeres, Ivone Carvalho, Laura Vilarinho, José Martinez-de-Oliveira, Edward Limbert, Manuel C. Lemos

المصدر: Nutrients, Vol 15, Iss 20, p 4447 (2023)

مصطلحات موضوعية: iodine, thyroid, pregnancy, growth, IQ, neurodevelopment, Nutrition. Foods and food supply, TX341-641

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2072-6643/15/20/4447; https://doaj.org/toc/2072-6643

URL الوصول: https://doaj.org/article/21f9145174494510b47e39b6902f08b1

المؤلفون: Manuela Schubert Baldo, Célia Nogueira, Cristina Pereira, Patrícia Janeiro, Sara Ferreira, Charles M. Lourenço, Anabela Bandeira, Esmeralda Martins, Marina Magalhães, Esmeralda Rodrigues, Helena Santos, Ana Cristina Ferreira, Laura Vilarinho

المصدر: Genes, Vol 14, Iss 8, p 1536 (2023)

مصطلحات موضوعية: leigh syndrome, mitochondrial disorders, mutational spectrum, clinical spectrum, NGS, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4425/14/8/1536; https://doaj.org/toc/2073-4425

URL الوصول: https://doaj.org/article/be046bed3ae043bd808605b69facf3cd

المؤلفون: Maria Lopes-Pereira, Susana Roque, Patrício Costa, Anna Quialheiro, Nadine Correia Santos, Ana Goios, Laura Vilarinho, Margarida Correia-Neves, Joana Almeida Palha

المصدر: BMC Pregnancy and Childbirth, Vol 20, Iss 1, Pp 1-7 (2020)

مصطلحات موضوعية: Iodine, Iodine deficiency, Iodine supplementation, Pregnancy, Nutrition, Psychomotor development, Gynecology and obstetrics, RG1-991

وصف الملف: electronic resource

Relation: http://link.springer.com/article/10.1186/s12884-020-03376-y; https://doaj.org/toc/1471-2393

URL الوصول: https://doaj.org/article/2de00a458ca54beca33075a486b34cbf

المؤلفون: Manuela Schubert Baldo, Laura Vilarinho

المصدر: Orphanet Journal of Rare Diseases, Vol 15, Iss 1, Pp 1-14 (2020)

مصطلحات موضوعية: Leigh syndrome, Leigh-like syndrome, NARP, MILS, OXPHOS, Review, Medicine

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1172

URL الوصول: https://doaj.org/article/5123a23bd16644fbad50b096ebe28b84

المؤلفون: Margarida Paiva Coelho, Joana Correia, Aureliano Dias, Célia Nogueira, Anabela Bandeira, Esmeralda Martins, Laura Vilarinho

المصدر: JIMD Reports, Vol 49, Iss 1, Pp 11-16 (2019)

مصطلحات موضوعية: 3‐methylglutaconic aciduria, Fe‐S clusters, ISD11, LYRM4, mitochondrial disorder, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2192-8312

URL الوصول: https://doaj.org/article/c9ae8f1531444b8b8bb4b39c32c3ead2