Carla Maria da Silva Pombo Carmona
AuthID: R-00H-H5B
1
TITLE: Co-occurrence of neurofibromatosis type 1, caused by Alu insertion, and 16p13.11 microduplication Full Text
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
AUTHORS: Quental, Rita; Pinho, Diana; Tkachenko, Natalia; Gonzaga, Diana; Mota, Maria do Ceu; Garrido, Cristina; Carmona, Carla; Quental, Sofia; Fortuna, Ana Maria; Soares, Celia Azevedo;
PUBLISHED: 2024, SOURCE: EGYPTIAN JOURNAL OF MEDICAL HUMAN GENETICS, VOLUME: 25, ISSUE: 1
2
TITLE: Tyrosinemia type III: a case report of siblings and literature review Full Text
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
AUTHORS: Barroso, F; Correia, J; Bandeira, A; Carmona, C; Vilarinho, L; Almeida, M; Rocha, JC ; Martins, E ;
PUBLISHED: 2020, SOURCE: REVISTA PAULISTA DE PEDIATRIA, VOLUME: 38
3
TITLE: Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report
AUTHORS: Pinto, A; Almeida, MF; Cunha, A; Carmona, C; Rocha, S; Guimas, A; Ribeiro, R; Mota, CR; Martins, E ; MacDonald, A; Rocha, JC ;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 13
AUTHORS: Pinto, A; Almeida, MF; Cunha, A; Carmona, C; Rocha, S; Guimas, A; Ribeiro, R; Mota, CR; Martins, E ; MacDonald, A; Rocha, JC ;
PUBLISHED: 2017, SOURCE: MOLECULAR GENETICS AND METABOLISM REPORTS, VOLUME: 13
4
TITLE: Long-term Follow-up of 132 Patients With Phenylketonuria: potential effects of Phe levels on neuropsychological development Full Text
AUTHORS: Carla M Carmona; Manuela F Almeida; Ana M Fortuna;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Carla M Carmona; Manuela F Almeida; Ana M Fortuna;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: 
WOS
WOS5
TITLE: Medical Students' Opinions concerning Genetic Tests, Genetic Diagnosis and related Bioethical Problems: a survey during the academic year 2014-2015 Full Text
AUTHORS: Natalia Oliva Teles; Carla Carmona; Rui Nunes ; Ana Fortuna;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
AUTHORS: Natalia Oliva Teles; Carla Carmona; Rui Nunes ; Ana Fortuna;
PUBLISHED: 2016, SOURCE: Unit-for-Multidisciplinary-Research-in-Biomedicine Summit in MEDICINE, VOLUME: 95, ISSUE: 10
INDEXED IN: WOS
WOS6
TITLE: The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients Full Text
AUTHORS: Rivera, I ; Cabral, A; Almeida, M; Leandro, P ; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E ; Lechner, MC; de Almeida, IT ; Konecki, DS; Lichter Konecki, U;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
AUTHORS: Rivera, I ; Cabral, A; Almeida, M; Leandro, P ; Carmona, C; Eusebio, F; Tasso, T; Vilarinho, L; Martins, E ; Lechner, MC; de Almeida, IT ; Konecki, DS; Lichter Konecki, U;
PUBLISHED: 2000, SOURCE: MOLECULAR GENETICS AND METABOLISM, VOLUME: 69, ISSUE: 3
7
TITLE: Phenylketonuria in Portugal: Multidisciplinary approach
AUTHORS: Vaz Osorio, R; Vilarinho, L; Carmona, C; Almeida, M;
PUBLISHED: 1993, SOURCE: Developmental Brain Dysfunction, VOLUME: 6, ISSUE: 1-3
AUTHORS: Vaz Osorio, R; Vilarinho, L; Carmona, C; Almeida, M;
PUBLISHED: 1993, SOURCE: Developmental Brain Dysfunction, VOLUME: 6, ISSUE: 1-3
INDEXED IN: 
Scopus
Scopus IN MY: 
ORCID
ORCID