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CDG Therapies: From Bench to Bedside

International journal of molecular sciences, 2018-04, Vol.19 (5), p.1304

2018

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

Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-329, Article 329

2023

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

Genes, 2019-11, Vol.10 (12), p.978

2019

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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)

Orphanet journal of rare diseases, 2022-03, Vol.17 (1), p.134-134, Article 134

2022

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

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-303, Article 303

2022

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Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK1/2 and p38 MAPK activation

Molecular oncology, 2018-05, Vol.12 (5), p.579-593

2018

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Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Frontiers in immunology, 2024, Vol.15, p.1350101-1350101

2024

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Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

Orphanet journal of rare diseases, 2018-11, Vol.13 (1), p.215-215, Article 215

2018

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

International journal of molecular sciences, 2022-08, Vol.23 (15), p.8725

2022

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Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.29-48

2019

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Sialyl LewisX/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer

Cancers, 2023-01, Vol.15 (3), p.731

2023

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

Journal of clinical medicine, 2020-07, Vol.9 (7), p.2092

2020

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CDG and immune response: From bedside to bench and back

Journal of inherited metabolic disease, 2020-01, Vol.43 (1), p.90-124

2020

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Patient-reported outcomes and quality of life in PMM2-CDG

Molecular genetics and metabolism, 2022-06, Vol.136 (2), p.145-151

2022

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

Journal of inherited metabolic disease, 2019-01, Vol.42 (1), p.5-28

2019

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Sialyl Lewis X/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer

Cancers, 2023-01, Vol.15 (3)

2023

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

Journal of inherited metabolic disease, 2021-01, Vol.44 (1), p.148-163

2021

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A Participatory Framework for Plain Language Clinical Management Guideline Development

International journal of environmental research and public health, 2022-10, Vol.19 (20), p.13506

2022

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A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases

International journal of environmental research and public health, 2023-01, Vol.20 (2), p.968

2023

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

International journal of environmental research and public health, 2022-06, Vol.19 (11), p.6829

2022

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Sialyl Lewis[sup.X/A] and Cytokeratin Crosstalk in Triple Negative Breast Cancer

Cancers, 2023-02, Vol.15 (3)

2023

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Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK 1/2 and p38 MAPK activation

Molecular oncology, 2018-05, Vol.12 (5), p.579-593

2018

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

Journal of inherited metabolic disease, 2019-05, Vol.42 (3), p.577-577

2019

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Immunological Aspects of Glycosylation: From Aberrant to Defective Glycosylation

Pascoal, Carlota Moutinho

2017

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Genetics & Heredity
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Congenital Disorders Of Glycosylation
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Rare Diseases
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CDG Therapies: From Bench to Bedside

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

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

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)

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

Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK1/2 and p38 MAPK activation

Revisiting the immunopathology of congenital disorders of glycosylation: an updated review

Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review

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

Keeping an eye on congenital disorders of O‐glycosylation: A systematic literature review

Sialyl LewisX/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer

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

CDG and immune response: From bedside to bench and back

Patient-reported outcomes and quality of life in PMM2-CDG

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

Sialyl Lewis X/A and Cytokeratin Crosstalk in Triple Negative Breast Cancer

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

A Participatory Framework for Plain Language Clinical Management Guideline Development

A Community-Based Participatory Framework to Co-Develop Patient Education Materials (PEMs) for Rare Diseases: A Model Transferable across Diseases

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

Sialyl Lewis[sup.X/A] and Cytokeratin Crosstalk in Triple Negative Breast Cancer

Inhibition of fucosylation in human invasive ductal carcinoma reduces E‐selectin ligand expression, cell proliferation, and ERK 1/2 and p38 MAPK activation

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

Immunological Aspects of Glycosylation: From Aberrant to Defective Glycosylation

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