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PubPharm (14)
1
Congenital disorders of glycosylation (CDG): state of the art in 2022
in:
Orphanet Journal of Rare Diseases
| 2023
von
Rita Francisco
|
Sandra Brasil
|
Joana Poejo
| +4
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2
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of Glycosylation
in:
International Journal of Environmental Research and Public Health
| 2022
von
Rita Francisco
|
Sandra Brasil
|
Carlota Pascoal
| +6
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3
Stakeholders’ views on drug development: the congenital disorders of glycosylation community perspective
in:
Orphanet Journal of Rare Diseases
| 2022
von
Maria Monticelli
|
Rita Francisco
|
Sandra Brasil
| +6
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4
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)
in:
Orphanet Journal of Rare Diseases
| 2022
von
Rita Francisco
|
Sandra Brasil
|
Carlota Pascoal
| +4
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5
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)
in:
International Journal of Molecular Sciences
| 2022
von
Sandra Brasil
|
Mariateresa Allocca
|
Salvador C. M. Magrinho
| +12
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6
Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases
in:
Frontiers in Molecular Biosciences
| 2021
von
Sandra Brasil
|
Sandra Brasil
|
Cátia José Neves
| +12
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7
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach
in:
Journal of Clinical Medicine
| 2020
von
Rita Francisco
|
Carlota Pascoal
|
Dorinda Marques-da-Silva
| +7
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8
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variants
in:
Orphanet Journal of Rare Diseases
| 2018
von
Sandra Brasil
|
Fátima Leal
|
Ana Vega
| +21
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9
CDG Therapies: From Bench to Bedside
in:
International Journal of Molecular Sciences
| 2018
von
Sandra Brasil
|
Carlota Pascoal
|
Rita Francisco
| +6
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10
Patient and observer reported outcome measures to evaluate health-related quality of life in inherited metabolic diseases: a scoping review
in:
Orphanet Journal of Rare Diseases
| 2018
von
Carlota Pascoal
|
Sandra Brasil
|
Rita Francisco
| +6
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biomarkers
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1
Congenital Disorder(s) of Glycosylation (CDG)
1
Congenital Disorders of Glycosylation (CDG)
1
Congenital disorder(s) of glycosylation (CDG)
1
Congenital disorders of glycosylation (CDG)
1
Disease classification
1
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1
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1
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1
Homocystinuria
1
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