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International Journal of Molecular Sciences|April 28, 2018
CDG Therapies: From Bench to BedsideSandra Brasil, Carlota Pascoal, Rita Francisco, et al.
Orphanet Journal of Rare Diseases|July 30, 2022
Stakeholders' views on drug development: the congenital disorders of glycosylation community perspectiveMaria Monticelli, Rita Francisco, Sandra Brasil, et al.
International Journal of Environmental Research and Public Health|June 10, 2022
A Community-Led Approach as a Guide to Overcome Challenges for Therapy Research in Congenital Disorders of GlycosylationRita Francisco, Sandra Brasil, Carlota Pascoal, et al.
Journal of Clinical Medicine|July 9, 2020
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric ApproachRita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.
International Journal of Environmental Research and Public Health|October 27, 2022
A Participatory Framework for Plain Language Clinical Management Guideline DevelopmentRita Francisco, Susana Alves, Catarina Gomes, et al.
Journal of Medical Microbiology|April 12, 2012
Prevalence, distribution and antifungal susceptibility profiles of Candida parapsilosis, Candida orthopsilosis and Candida metapsilosis bloodstream isolatesLucas Xavier Bonfietti, Marilena Dos Anjos Martins, Maria Walderez Szeszs, et al.
International Journal of Molecular Sciences|August 12, 2022
Systematic Review: Drug Repositioning for Congenital Disorders of Glycosylation (CDG)Sandra Brasil, Mariateresa Allocca, Salvador C M Magrinho, et al.
Orphanet Journal of Rare Diseases|July 26, 2018
Improving the diagnosis of cobalamin and related defects by genomic analysis, plus functional and structural assessment of novel variantsSandra Brasil, Fátima Leal, Ana Vega, et al.
Journal of Inherited Metabolic Disease|July 19, 2020
International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and managementRuqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, et al.
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