Sandra Brasil

Caparica, 2819516, Portugal

Last Updated: 09/26/2026

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Found 25 publications

Congenital disorders of glycosylation (CDG): state of the art in 2022.

Congenital disorders of glycosylation (CDG): state of the art in 2022.

Journal: Orphanet journal of rare diseases

Published: April 22, 2023

A Participatory Framework for Plain Language Clinical Management Guideline Development.

A Participatory Framework for Plain Language Clinical Management Guideline Development.

Journal: International journal of environmental research and public health

Published: July 29, 2022

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Patient reported outcomes for phosphomannomutase 2 congenital disorder of glycosylation (PMM2-CDG): listening to what matters for the patients and health professionals.

Journal: Orphanet journal of rare diseases

Published: June 28, 2022

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).

Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG).

Journal: International journal of molecular sciences

Published: June 27, 2022

Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.

Stakeholders' views on drug development: the congenital disorders of glycosylation community perspective.

Journal: Orphanet journal of rare diseases

Published: April 27, 2022

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.

A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation.

Journal: International journal of environmental research and public health

Published: March 09, 2022

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).

The road to successful people-centric research in rare diseases: the web-based case study of the Immunology and Congenital Disorders of Glycosylation questionnaire (ImmunoCDGQ).

Journal: Orphanet journal of rare diseases

Published: October 28, 2021

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.

Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases.

Journal: Frontiers in molecular biosciences

Published: December 31, 2020

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.

Journal: Journal of clinical medicine

Published: May 28, 2020

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.

Journal: Journal of inherited metabolic disease

Published: April 20, 2020

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

Artificial Intelligence (AI) in Rare Diseases: Is the Future Brighter?

Journal: Genes

Published: September 30, 2019

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.

Journal: Journal of inherited metabolic disease

Published: February 12, 2019

Showing 1-12 of 25

Last Updated: 09/26/2026