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PKU TV - PORTUGAL
A channel dedicated to share information about the management of PKU in Portugal,
exploring the different stages of a patient’s journey and the best practices in the country.
These informative videos are the result of a close collaboration where different PKU experts
provide an overall and still comprehensive view of the reality in Portugal.
Click 
to watch the videos.
APOFEN
PATIENT SOCIETY
ELISABETE ALMEIDA
WHAT IS PKU?
LAURA VILARINHO
SPDM
PORTUGUESE SOCIETY FOR
METABOLIC DISORDERS
DANIEL GOMES
APOFEN
PATIENT SOCIETY
ELISABETE ALMEIDA
WHAT IS PKU?
LAURA VILARINHO
SPDM
PORTUGUESE SOCIETY FOR METABOLIC DISORDERS
DANIEL GOMES
NEWBORN SCREENING:
THE DIAGNOSTIC JOURNEY
LAURA VILARINHO
PKU IN PAEDIATRICS:
1ST CONTACT
ESMERALDA MARTINS
PKU IN PAEDIATRICS: SCHOOL AGE AND ONWARDS
ESMERALDA MARTINS
FROM PAEDIATRICS TO ADULTHOOD – THE TRANSITION
ARLINDO GUIMAS
NEWBORN SCREENING:THE DIAGNOSTIC JOURNEY
LAURA VILARINHO
PKU IN PAEDIATRICS:
1ST CONTACT
ESMERALDA MARTINS
PKU IN PAEDIATRICS SCHOOL AGE AND ONWARDS
ESMERALDA MARTINS
FROM PAEDIATRICS TO ADULTHOOD – THE TRANSITION
ARLINDO GUIMAS
LIVING WITH PKU THROUGH ADULTHOOD
DANIEL GOMES
MATERNAL PKU & PREGNANCY
DANIEL GOMES
FUTURE PERSPECTIVES
LIVING WITH PKU THROUGH ADULTHOOD
DANIEL GOMES
MATERNAL PKU & PREGNANCY
DANIEL GOMES
FUTURE PERSPECTIVES
ELISABETE ALMEIDA
President of the Portuguese Association of Phenylketonuria and Other Inherited Disorders of the Protein Metabolism.
Psychologist, active member of the Association since 2010, assuming the Presidency in 2018.
Porto, Portugal.
LAURA VILARINHO, PhD
Coordinator of the Executive Committee of the National Newborn Screening Program since 2012.
Specialist in Genetics. Head of the Metabolism and Genetics Unit, Human Genetics Department,
National Institute of Health Doutor Ricardo Jorge.
Porto, Portugal.
DANIEL GOMES, MD
Internist, Specialist in Inherited Metabolic Disorders.
Reference Center for Inherited Metabolic Disorders.
Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte.
President of the Portuguese Society for Metabolic Disorders since 2020.
Lisbon, Portugal.
ESMERALDA MARTINS, MD, PhD
Paediatrician, Specialist in Inherited Metabolic Disorders.
Head of the Reference Center for Inherited Metabolic Disorders.
Centro Materno-Infantil do Norte, Centro Hospitalar Universitário do Porto.
Porto, Portugal.
ARLINDO GUIMAS, MD
Internist, Specialist in Inherited Metabolic Disorders.
Reference Center for Inherited Metabolic Disorders.
Hospital Santo António, Centro Hospitalar Universitário do Porto.
Porto, Portugal.
A special thanks to all healthcare professionals who contributed without any remuneration for the development of the materials displayed in this webpage.
This campaign has been funded and developed by BioMarin in collaboration with these organisations: AMMeC and Cometa A.S.M.M.E (Padua) (Italy), Les Feux Follets (France), Svenska PKU-föreningen (Sweden), PKU Aile Derneği (Turkey), FEEMH (Spain), APOFEN (Portugal), PKUAI (Ireland) and Magyarországi PKU Egyesulet (Hungary).
Job code: EU-PKU-00138 | Date of prep: June 2021
