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Beyond genetics: Deciphering the impact of missense variants in CAD deficiency.
Del Caño-Ochoa F, Ng BG, Rubio-Del-Campo A, Mahajan S, Wilson MP, Vilar M, Rymen D, Sánchez-Pintos P, Kenny J, Ley Martos M, Campos T, Wortmann SB, Freeze HH, Ramón-Maiques S. Del Caño-Ochoa F, et al. Among authors: campos t. J Inherit Metab Dis. 2023 Nov;46(6):1170-1185. doi: 10.1002/jimd.12667. Epub 2023 Sep 11. J Inherit Metab Dis. 2023. PMID: 37540500 Free PMC article.
SLC37A4-CDG: Second patient.
Wilson MP, Quelhas D, Leão-Teles E, Sturiale L, Rymen D, Keldermans L, Race V, Souche E, Rodrigues E, Campos T, Van Schaftingen E, Foulquier F, Garozzo D, Matthijs G, Jaeken J. Wilson MP, et al. Among authors: campos t. JIMD Rep. 2021 Jan 6;58(1):122-128. doi: 10.1002/jmd2.12195. eCollection 2021 Mar. JIMD Rep. 2021. PMID: 33728255 Free PMC article.
Role of RNA in Molecular Diagnosis of MADD Patients.
Nogueira C, Silva L, Marcão A, Sousa C, Fonseca H, Rocha H, Campos T, Teles EL, Rodrigues E, Janeiro P, Gaspar A, Vilarinho L. Nogueira C, et al. Among authors: campos t. Biomedicines. 2021 May 4;9(5):507. doi: 10.3390/biomedicines9050507. Biomedicines. 2021. PMID: 34064479 Free PMC article.
[Protocol for the etiological investigation of cerebral palsy].
Lourenço L, Campos T, Rodrigues E, Sousa R, Guardiano M, Leão M. Lourenço L, et al. Among authors: campos t. Rev Neurol. 2019 Dec 16;69(12):512-513. doi: 10.33588/rn.6912.2019300. Rev Neurol. 2019. PMID: 31820821 Free article. Spanish.
Symptomatic hypoglycemia in a child with common variable immunodeficiency: Deficient anterior pituitary with variable immune deficiency (DAVID) syndrome.
Nogueira M, Pinheiro M, Maia R, Silva RS, Costa C, Campos T, Leão M, Vitor AB, Castro-Correia C, Fontoura M. Nogueira M, et al. Among authors: campos t. Clin Pediatr Endocrinol. 2020;29(3):111-113. doi: 10.1297/cpe.29.111. Epub 2020 Jul 11. Clin Pediatr Endocrinol. 2020. PMID: 32694887 Free PMC article.
The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study.
Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L. Nogueira C, et al. Among authors: campos t. Front Cell Dev Biol. 2024 Feb 23;12:1331351. doi: 10.3389/fcell.2024.1331351. eCollection 2024. Front Cell Dev Biol. 2024. PMID: 38465286 Free PMC article.
Hyperammonaemic encephalopathy in a teenage girl.
Magalhães T, Campos T, Rodrigues E, Vasconcelos C, Fontoura M, Vilarinho L, Leão-Teles E. Magalhães T, et al. Among authors: campos t. J Paediatr Child Health. 2022 Jul;58(7):1270-1271. doi: 10.1111/jpc.15824. Epub 2021 Nov 2. J Paediatr Child Health. 2022. PMID: 34725893 No abstract available.
Neonatal Glycogen Storage Disease Type IA: A Rare Presentation.
Tenente J, Campos T, Vasconcelos C, Santos H, Carvalho M, Ramos A, Vilarinho L, Rodrigues E, Teles EL. Tenente J, et al. Among authors: campos t. Endocr Metab Immune Disord Drug Targets. 2023 Oct 19. doi: 10.2174/0118715303278622231006102118. Online ahead of print. Endocr Metab Immune Disord Drug Targets. 2023. PMID: 37859321
Phenylketonuria in Portugal: Genotype-phenotype correlations using molecular, biochemical, and haplotypic analyses.
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. Ferreira F, et al. Among authors: campos t. Mol Genet Genomic Med. 2021 Mar;9(3):e1559. doi: 10.1002/mgg3.1559. Epub 2021 Jan 19. Mol Genet Genomic Med. 2021. PMID: 33465300 Free PMC article.
496 results