Any combination of keywords is accepted.

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

Article

Disorders (CDG Types): MAGT1-CDG (XMEN Disease), EXTL3-CDG, PGM3-CDG, ALG12-CDG, MOGS-CDG, ATP6AP1-CDG, SLC35C1-CDG , Congenital neutropenia 4, JAGN1-CDG, VPS13B-CDG , FUT8-CDG
Year: 2024
Authors: Carlota Pascoal, Rita Francisco, Patrícia Mexia, Beatriz Luís Pereira, Pedro Granjo, Helena Coelho, Mariana Barbosa, Vanessa Dos Reis Ferreira, Paula A Videira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS)

Article
Disorders (CDG Types): PMM2-CDG, Nonaka myopathy, All CDGs
Year: 2024
Authors: Joana Poejo, Ana Isabel Gomes, Pedro Granjo, Vanessa Dos Reis Ferreira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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

Article

Congenital disorders of glycosylation (CDG) are a complex and heterogeneous family of rare metabolic diseases. With a clinical history that dates back over 40 years, it was the recent multi-omics advances that mainly contributed to the fast-paced and encouraging developments in the field. However, much remains to be understood, with targeted therapies' discovery and approval being the most urgent unmet need.

Disorders (CDG Types): All CDGs
Year: 2023
Authors: Rita Francisco, Sandra Brasil, Joana Poejo, Jaak Jaeken, Carlota Pascoal, Paula A Videira, Vanessa Dos Reis Ferreira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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MOGS-CDG

Infographic
MOGS-CDG
Disorders (CDG Types): MOGS-CDG
Year: 2022
Authors: Marta Falcão, Carlota Pascoal, Rita Francisco, Juliana Sampaio, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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MPDU1-CDG

Infographic
MPDU1-CDG
Disorders (CDG Types): MPDU1-CDG
Year: 2022
Authors: Carlota Pascoal, Rita Francisco, Marta Falcão, Penelope Rose, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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COG5-CDG

Infographic
COG5-CDG
Disorders (CDG Types): COG5-CDG
Year: 2022
Authors: Rita Francisco, Sandra Brasil, Vanessa Dos Reis Ferreira, Marta Falcão, Carlota Pascoal, Prof. Jaak Jaeken
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation

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1st Luso Brazilian CDG Meeting

Meeting
Disorders (CDG Types): All CDGs
Year: 2022
Keywords: CDG, Congenital Disorders of Glycosylation, Portugal, Brazil, Meeting

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A Participatory Framework for Plain Language Clinical Management Guideline Development

Article

Background: Clinical management guidelines (CMGs) are decision support tools for patient care used by professionals, patients, and family caregivers. Since clinical experts develop numerous CMGs, their technical language hinders comprehension and access by nonmedical stakeholders. Additionally, the views of affected individuals and their families are often not incorporated into treatment guidelines.

Disorders (CDG Types): All CDGs
Year: 2022
Authors: Rita Francisco, Susana Alves, Catarina Gomes, Pedro Granjo, Carlota Pascoal, Sandra Brasil, Alice Neves, Inês Santos , Andrea Miller, Donna Krasnewich, Eva Morava, Christina Lam, Jaak Jaeken, Paula A. Videira, Vanessa Dos Reis Ferreira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, clinical management guidelines, plain language, people-centric, PMM2-CDG, Rare Diseases, participatory medicine, health literacy

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Epidemiology of congenital disorders of glycosylation (CDG)—overview and perspectives

Article

Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG

Disorders (CDG Types): All CDGs
Year: 2022
Authors: Ana Piedade, Vanessa Dos Reis Ferreira, Rita Francisco, Jaak Jaeken, Peymaneh Sarkhail, Sandra Brasil, Carlos R. Ferreira, Tatiana Rijof, Carlota Pascoal, Alexandre Gil, Ana Beatriz Lourenço, Marta Abreu, Mafalda Gomes, Paula A. Videira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, Epidemiology, Glycosylation, Prevalence, Frequency, Incidence, Pathogenic variants, Allelic frequency, Literature review

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

Article

Abstract: At least 50% of chronic disease patients don’t follow their care plans, leading to lower health outcomes and higher medical costs. Providing Patient Education Materials (PEMs) to individuals living with a disease can help to overcome these problems. PEMs are especially beneficial for people suffering from multisystemic and underrecognized diseases, such as rare diseases.

Disorders (CDG Types): All CDGs
Year: 2022
Authors: Marta Falcão, Mariateresa Allocca , Ana Sofia Rodrigues, Pedro Granjo, Rita Francisco, Carlota Pascoal, Maria Grazia Rossi , Dorinda Marques-da-Silva, Salvador C. M. Magrinho , Jaak Jaeken, Larisa Aragon Castro, Cláudia de Freitas, Paula A. Videira, Luísa de Andrés-Aguayo, Vanessa Dos Reis Ferreira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, Rare Diseases, patient education material PEM, community-based participatory research, public and patient involvement PPI, health literacy, Patient empowerment, people-centric, plain-language

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