Carla Maria da Silva Pombo Carmona


AuthID: R-00H-H5B

Confirmed Publications: 8



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
INDEXED IN: Scopus WOS CrossRef
2
TITLE: PARADIGM SHIFT IN PHENYLKETONURIA NEURODEVELOPMENTAL OUTCOMES - RETROSPECTIVE COHORT ANALYSIS  Full Text
AUTHORS: Soares, Celia Azevedo ; Almeida, Manuela Ferreira ; Fortuna, Ana Maria; Carmona, Carla ;
PUBLISHED: 2023, SOURCE: 26th Annual Meeting of the Portuguese-Society-of-Human-Genetics (SPGH) in MEDICINE, VOLUME: 102, ISSUE: 13
INDEXED IN: WOS
3
TITLE: Predicting factors of neurodevelopmental performance in children with phenylketonuria
AUTHORS: Soares, Celia Azevedo ; Almeida, Manuela Ferreira ; Soares, Gabriela; Tkachenko, Natalia; Fortuna, Ana Maria; Carmona, Carla ;
PUBLISHED: 2023, SOURCE: AMERICAN JOURNAL OF MEDICAL GENETICS PART A, VOLUME: 191, ISSUE: 6
INDEXED IN: Scopus WOS CrossRef: 1
4
TITLE: Implementing a Transition Program from Paediatric to Adult Services in Phenylketonuria: Results after Two Years of Follow-Up with an Adult Team  Full Text
AUTHORS: Peres, M; Almeida, MF ; Pinto, EJ; Carmona, C ; Rocha, S; Guimas, A; Ribeiro, R; Martins, E; Bandeira, A; MacDonald, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 3
INDEXED IN: Scopus WOS CrossRef: 10 Handle
5
TITLE: Metabolic Control of Patients with Phenylketonuria in a Portuguese Metabolic Centre Comparing Three Different Recommendations  Full Text
AUTHORS: Kanufre, V; Almeida, MF ; Barbosa, CS; Carmona, C ; Bandeira, A; Martins, E; Rocha, S; Guimas, A; Ribeiro, R; MacDonald, A; Pinto, A; Rocha, JC ;
PUBLISHED: 2021, SOURCE: NUTRIENTS, VOLUME: 13, ISSUE: 9
INDEXED IN: Scopus WOS CrossRef: 14
6
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
INDEXED IN: Scopus WOS CrossRef: 2
IN MY: ORCID
7
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
INDEXED IN: WOS
8
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
INDEXED IN: WOS

footer slogan

Useful Links

Get Help

© 2025 CRACS & Inesc TEC - All Rights Reserved Privacy Policy | Terms of Service