Personal information

Other IDs

Scopus Author ID: 35583757100
Scopus Author ID: 36841708500
Ciência ID: 9013-D7B1-3F51

Activities

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Employment (1)

Centro Hospitalar Universitário de Santo António: Porto, Porto, PT

1986-09 to present | Clinical Psychologist (Centro de Genética Médica)
Employment
Source: Self-asserted source
Carla Carmona

Education and qualifications (3)

Universidade do Minho Escola de Psicologia: Braga, PT

2002 to 2007 | PhD in Clinical Psychology
Education
Source: Self-asserted source
Carla Carmona

Universidade do Porto Faculdade de Psicologia e de Ciências da Educação: Porto, Porto, PT

1991 to 1995-03-29 | Master Degree in Developmental Psychology and Child Education
Education
Source: Self-asserted source
Carla Carmona

Universidade do Porto Faculdade de Psicologia e de Ciências da Educação: Porto, Porto, PT

1981 to 1985 | Licence in Psychology
Education
Source: Self-asserted source
Carla Carmona

Professional activities (2)

Centro Hospitalar Universitário do Porto: Porto, Portugal, PT

Organizing Committee for the XLVII Conferences on Medical Genetics Doutor Jacinto Magalhães. 11Th May 2019. Porto. Portugal. (Centro de Genética Médica Jacinto Magalhães)
Invited position
Source: Self-asserted source
Carla Carmona

Centro Hospitalar Universitário do Porto: Porto, Portugal, PT

Scientifique Commitee – Meeting “ Any Body Any Age: An Introduction To Inherited Metabolic Disorders (Centro Hospitalar Universitário do Porto/CMIN)
Service
Source: Self-asserted source
Carla Carmona

Funding (1)

Genetic and non-genetic factors contributing for phenylketonuria phenotype diversity: a study based on the Portuguese Neonatal Screening Program

Source: Self-asserted source
Carla Carmona via DimensionsWizard
grade
Preferred source (of 2)‎

Works (45)

“Forty-three Years Of Neonatal Screening In Portugal: Results of a Retrospective Cohort Study with 113 Adult PKU Patients

SSIEM Annual Symposium 2023
2023-08 | Conference abstract | Investigation
Contributors: Carla Carmona; Esmeralda Martins; Manuela Almeida; Célia Soares; Anabela bandeira; Joana Correia; Ana Cunha; Arlindo Guimas; Rosa Ribeiro; Rute Martins et al.
Source: Self-asserted source
Carla Carmona

“Predicting factors of neurodevelopmental performance in children with phenylketonuria”.

American Journal of Medical Genetics
2023-03 | Journal article | Investigation
Contributors: Carla Carmona; Célia Azevedo Soares; Manuela Ferreira Almeida; Gabriela Soares; Natália Tkachenko; Ana Maria Fortuna
Source: Self-asserted source
Carla Carmona

TYROSINEMIA TYPE III: A CASE REPORT OF SIBLINGS AND LITERATURE REVIEW

Revista Paulista de Pediatria
2020 | Journal article
DOI: 10.1590/1984-0462/2020/38/2018158
Contributors: Fábio Barroso; Joana Correia; Anabela Bandeira; Carla Carmona; Laura Vilarinho; Manuela Almeida; Júlio César Rocha; Esmeralda Martins
Source: check_circle
Crossref

Psychosocial Factors And Metabolic Control In Phenylketonuric Patients Followed-up At Centro Hospitalar Universitário do Porto Before And After Full Subsidy Of Dietary Products Used In Nutritional Treatment.

16Th International Symposium Of SPDM.
2020-11-11 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Long Term Follow-up In Patients With Hyperphenilalaninemia And Mild Phenylketonuria – Nutritional Status And Cognitive Outcomes

34Th E.S.PKU Conference 2020
2020-10-30 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

40 Years Of Early Diagnosis In Portugal – Biopsychosocial Profile Of 149 PKU Patients Followed At CGM/CHUP Throughout Life

XLVIII CONFERÊNCIAS DE GENÉTICA MÉDICA DOUTOR JACINTO MAGALHÃES
2020-01-31 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

From Genetic Diagnosis to Characterization Of Individual Development Potential Of individuals With Klinefelter Syndrome: Contribution Of Clinical Psychology Integrated Into A Medical Genetics Service

XLVIII CONFERÊNCIAS DE GENÉTICA MÉDICA DOUTOR JACINTO MAGALHÃES.
2020-01-31 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Follow-up Of 139 PKU Patients From New-Born Screening: Challenges In Psychological Support”

SSIEM AnnuaL Symposium.
2019-09-03 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Predicting Factors Associated With The Performance On The Griffiths Mental Development Scale At Age 6 In Children With Phenylketonuria: Retrospective Cohort Study

SSIEM AnnuaL Symposium.
2019-09-03 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Biopsychosocial profile Of PKU Patients Throughout Life: Challenges in Psychosocial Support”

15Th International Symposium Of SPDM
2019-03-15 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Transition From Paediatric To Adult Care In Phenylketonuria (TRANS-PAC-PKU): The 2 Years Impact On Metabolic Control And Adherence

15Th International Symposium Of SPDM
2019-03-15 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Nutritional Management Of MaternaL PKU In CHUP (NMMPKU): Retrospective Study And Offspring Outcome”

Annual Symposium Of The Society For The Study Of Inborn Errors Of Metabolism (SSIEM) - Old Roads
2018-09-04 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Transition From Paediatric To Adult Care In Phenylketonuria (TRANS-PAC-PKU): The 2 Years Impact On Metabolic Control And Adherence

Annual Symposium Of The Society For The Study Of Inborn Errors Of Metabolism (SSIEM) - Old Roads, New connections
2018-09-04 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Neurocognitive outcome and personality profile of 28 PKU adult patients followed-up at CGM-CHP: A retrospective study

XLVII Conferencias de Genética Médica
2018-05 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Factors Associated With The Performance On The Griffiths Mental Development Scale At Age 6 In Children With Phenylketonuria: Retrospective Cohort Study

XLVII Conferências De Genética Doutor Jacinto Magalhães - A Genética na Endocrinologia e no Metabolismo
2018-05-11 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Factors Associated With The Performance On The Griffiths Mental Development Scale At Age 6 In Children With Phenylketonuria: Retrospective Cohort Study

Harvard Medical School.
2018-02 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Dietary management of maternal phenylketonuria with glycomacropeptide and amino acids supplements: A case report

Molecular Genetics and Metabolism Reports
2017 | Journal article
DOI: 10.1016/j.ymgmr.2017.10.004
EID:

2-s2.0-85031491898
Contributors: Pinto, A.; Almeida, M.F.; Cunha, A.; Carmona, C.; Rocha, S.; Guimas, A.; Ribeiro, R.; Mota, C.R.; Martins, E.; MacDonald, A. et al.
Source: Self-asserted source
Carla Carmona via Scopus - Elsevier

The perceived quality of life and the ability to cope with challenges in 73 adult phenylketonuric patients from newborn screening – The experience of a Portuguese center

13Th International Congress of Inborn Errors of Metabolism.
2017-09-08 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

New insights into XLOS phenotype: the clinical, neurocognitive and behavioural features of 4 patients followed at CGM/CHP.

XLIVI Genetics Conferences Dr. Jacinto Magalhães on the Theme "Pediatric Neurogenetics
2017-01-18 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Infantile Refsum Disease: Influence of Dietary Treatment on Plasma Phytanic Acid levels

Journal Inherited. Metabolic Diseases
2016 | Journal article | Data curation
Contributors: Carla Carmona; Maria João Nabais; Esmeralda Martins; júlio César Rocha; Manuela Almeida; Lucia Lacerda; Gabriela Soares
Source: Self-asserted source
Carla Carmona

Looking Inside and Outside: The perceived quality of life and the ability to cope with challenges in adult phenylketonuric patients from newborn screening

12Th SPDM International Symposium
2016-03-17 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

The clinical and neurocognitive features of DiGeorge Syndrome patients of Centro de Genética Médica

Genetics Conference Dr. Jacinto Magalhães:“Cardiovascular Genetics - From Clinic to Laboratory
2016-02-26 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Evaluation Of The Opinion Of Medicine students (FMUP) On Ethical Problems Related To Genetic Tests And Diagnosis

14Th National Congress Of Bioethics Palliative Care In Children
2016-02-12 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Genetic Tests, Genetic Diagnosis And Bioethical Issues: Evaluation Of Medical Student’s Evaluation

European Human Genetics Conference
2015-06 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Long-Term Follow-Up Of Individuals With Williams-Beuren Syndrome: Facilitate Transition From Pediatric Medicine To Adult Medicine (A Case Report).

XLIV Genetics Conferences Doutor Jacinto Magalhães: "The Rare Disease In The Adult
2015-02-20 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Overweight and obesity in PKU: The results from 8 centres in Europe and Turkey

Molecular Genetics and Metabolism Reports
2014 | Journal article
DOI: 10.1016/j.ymgmr.2014.11.003
EID:

2-s2.0-84916939529
Contributors: Gokmen Ozel, H.; Ahring, K.; Bélanger-Quintana, A.; Dokoupil, K.; Lammardo, A.M.; Robert, M.; Rocha, J.C.; Almeida, M.F.; Van Rijn, M.; MacDonald, A.
Source: Self-asserted source
Carla Carmona via Scopus - Elsevier

Hand Dystonia: A Diagnostic Clue To ARX-Related Intellectual Disability

XLIII Genetics Conferences
2014-09 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Developmental follow-up of PKU patients diagnosed and treated early: mild to moderate neurocognitive delay can guide us in the investigation of other diseases

10th International Symposium – SPDM
2014-03-21 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Neurocognitive Development of 99 Adolescents and Adults with Phenylketonuria: Health Benefits Resulting from a Multidisciplinary Approach

5th Conference on Initiation to Clinical Research - CHP
2013 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

The Neuropsychological Development Of Fragile-X Syndrome: Deciphering The Development Profiles

International Congress on the Fragile X Syndrome
2013-04 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Multidisciplinary Follow-up Of Sixty Three Adults PKU Patients: Looking Data From Another Perspective To Understand Results.

IX International Symposium SPDM
2013-03-22 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Developmental follow-up of 90 adolescents and adult PKU patients: results and challenges of a multidisciplinary approach.

VIII International Symposium SPDM.
2011-11-04 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Intelligence, cognition and socio-emotional development of children, adolescents and young adults early treated for PKU: the need of school and professional guidance

Annual Symposium. Society for the Study of Inborn Errors of Metabolism
2008-09-05 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Specific cognitive deficits in a cohort of phenylketonuric patients early submitted to treatment

V International Symposium. SPDM.
2007-11-24 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

PKU – Is there a group risk? Investigation of 126 early treated patients

Annual Symposium. Society for the Study of Inborn Errors of Metabolism.
2007-09-07 | Conference poster
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

The correlation of genotype and phenotype in Portuguese hyperphenylalaninemic patients

Molecular Genetics and Metabolism
2000 | Journal article
DOI: 10.1006/mgme.2000.2971
EID:

2-s2.0-0034053978
Contributors: Rivera, I.; Cabral, A.; Almeida, M.; Leandro, P.; Carmona, C.; Eusébio, F.; Tasso, T.; Vilarinho, L.; Martins, E.; Lechner, M.C. et al.
Source: Self-asserted source
Carla Carmona via Scopus - Elsevier

Pediatric, Genetical, Nutritional and Psychological Intervention in Two Galactosemia Classic Cases

Nascer e Crescer
1997 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Psychological reactions to pregnancy termination for fetal anomaly

Progresos en Diagnostico Prenatal
1996 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Stickler Syndrome in a PKU Patient

Journal Inherited. Metabolic Diseases
1996 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Phenylketonuria in Portugal: A Multidisciplinary Approach

Devel. Brain Disfunction
1993 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Phenylketonuria in Portugal: Multidisciplinary approach

Developmental Brain Dysfunction
1993 | Journal article
EID:

2-s2.0-0027279389
Contributors: Vaz Osorio, R.; Vilarinho, L.; Carmona, C.; Almeida, M.
Source: Self-asserted source
Carla Carmona via Scopus - Elsevier

Growth and Development in Children with Phenylketonuria

Arquivos de Medicina
1992 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Study of psychomotor development and cognition in early-treated children with Congenital Hypothyroidism

Arquivos de Medicina
1990 | Journal article
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

Master Degree in Developmental Psychology and Child Education

Dissertation or Thesis
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona

PhD in Clinical Psychology

Dissertation or Thesis
Contributors: Carla Carmona
Source: Self-asserted source
Carla Carmona
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