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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