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2019 1
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Page 1
Proteomics in Inherited Metabolic Disorders.
Chantada-Vázquez MDP, Bravo SB, Barbosa-Gouveia S, Alvarez JV, Couce ML. Chantada-Vázquez MDP, et al. Among authors: barbosa gouveia s. Int J Mol Sci. 2022 Nov 25;23(23):14744. doi: 10.3390/ijms232314744. Int J Mol Sci. 2022. PMID: 36499071 Free PMC article. Review.
Plasma Proteomic Analysis in Morquio A Disease.
Álvarez JV, Bravo SB, Chantada-Vázquez MP, Barbosa-Gouveia S, Colón C, López-Suarez O, Tomatsu S, Otero-Espinar FJ, Couce ML. Álvarez JV, et al. Among authors: barbosa gouveia s. Int J Mol Sci. 2021 Jun 7;22(11):6165. doi: 10.3390/ijms22116165. Int J Mol Sci. 2021. PMID: 34200496 Free PMC article.
Maturity-onset diabetes of the young in a large Portuguese cohort.
Santos Monteiro S, da Silva Santos T, Fonseca L, Assunção G, Lopes AM, Duarte DB, Soares AR, Laranjeira F, Ribeiro I, Pinto E, Rocha S, Barbosa Gouveia S, Vazquez-Mosquera ME, Oliveira MJ, Borges T, Cardoso MH. Santos Monteiro S, et al. Among authors: barbosa gouveia s. Acta Diabetol. 2023 Jan;60(1):83-91. doi: 10.1007/s00592-022-01980-2. Epub 2022 Oct 8. Acta Diabetol. 2023. PMID: 36208343
Rapid Molecular Diagnosis of Genetically Inherited Neuromuscular Disorders Using Next-Generation Sequencing Technologies.
Barbosa-Gouveia S, Vázquez-Mosquera ME, González-Vioque E, Hermida-Ameijeiras Á, Sánchez-Pintos P, de Castro MJ, León SR, Gil-Fournier B, Domínguez-González C, Camacho Salas A, Negrão L, Fineza I, Laranjeira F, Couce ML. Barbosa-Gouveia S, et al. J Clin Med. 2022 May 12;11(10):2750. doi: 10.3390/jcm11102750. J Clin Med. 2022. PMID: 35628876 Free PMC article.
The correlation of lipid profile and waist circumference with phenylalanine levels in adult patients with classical phenylketonuria.
Vazquez-Agra N, Fernandez-Crespo S, Marques-Afonso AT, Cruces-Sande A, Barbosa-Gouveia S, Martinez-Olmos MA, Hermida-Ameijeiras A. Vazquez-Agra N, et al. Among authors: barbosa gouveia s. Med Clin (Barc). 2023 May 12;160(9):385-391. doi: 10.1016/j.medcli.2022.09.025. Epub 2023 Jan 9. Med Clin (Barc). 2023. PMID: 36628809 English, Spanish.
Transcriptomic analysis of patients with clinical suspicion of maturity-onset diabetes of the young (MODY) with a negative genetic diagnosis.
Vázquez-Mosquera ME, González-Vioque E, Barbosa-Gouveia S, Bellido-Guerrero D, Tejera-Pérez C, Martinez-Olmos MA, Fernández-Pombo A, Castaño-González LA, Chans-Gerpe R, Couce ML. Vázquez-Mosquera ME, et al. Among authors: barbosa gouveia s. Orphanet J Rare Dis. 2022 Mar 4;17(1):105. doi: 10.1186/s13023-022-02263-3. Orphanet J Rare Dis. 2022. PMID: 35246208 Free PMC article.
Case Report: Diffuse Polymicrogyria Associated With a Novel ADGRG1 Variant.
Carneiro F, Duarte J, Laranjeira F, Barbosa-Gouveia S, Couce ML, Fonseca MJ. Carneiro F, et al. Among authors: barbosa gouveia s. Front Pediatr. 2021 Aug 27;9:728077. doi: 10.3389/fped.2021.728077. eCollection 2021. Front Pediatr. 2021. PMID: 34513772 Free PMC article.
14 results