Any combination of keywords is accepted.

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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DOLK-CDG Infographic

Infographic
DOLK-CDG
Disorders (CDG Types): DOLK-CDG
Year: 2022
Authors: Carlota Pascoal, Rita Francisco, Gonçalo Mineiro, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, DOLK-CDG

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COG4-CDG Infographic

Infographic
COG4
Disorders (CDG Types): COG4-CDG
Year: 2022
Authors: Sandra Brasil, Rita Francisco, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, COG4-CDG

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PGM1-CDG Infographic

Infographic
PGM1-CDG Infographic
Disorders (CDG Types): PGM1-CDG
Year: 2021
Authors: Rita Francisco, Sandra Brasil, Daniela Teixeira, Gabriel Bessa Ribeiro, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, PGM1-CDG, PGM1-CDG

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FUT8-CDG Infographic

Infographic
FUT8-CDG_A2_POSTER_en.thumbnail.png
Disorders (CDG Types): FUT8-CDG
Year: 2021
Authors: Paz Briones, Mª Antonia Vilaseca, Gonçalo Mineiro, Rita Francisco, Carlota Pascoal, Heather & Matt Conneran, Hudson H Freeze, Bobby G Ng, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, FUT8-CDG

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ALG6-CDG Infographic

Infographic
ALG6-CDG_Infographic_thumbnail
Disorders (CDG Types): ALG6-CDG
Year: 2021
Authors: Rita Francisco, Sandra Brasil, Cynthia Wren-Grey, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese
Keywords: CDG, Congenital Disorders of Glycosylation, ALG6-CDG

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Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?

Article

Background: Congenital disorders of glycosylation are a group of rare metabolic, genetic diseases that
cause severe cognitive and physical impairments. Owing to the rarity of this condition, the experiences of
these parents are poorly understood.
Objective: This study aimed to explore parents’ experiences of caring for a child or young adult with
congenital disorders of glycosylation.

Disorders (CDG Types): All CDGs
Year: 2021
Authors: Carolina Cardão, Luísa Barros, Rita Francisco, Dorinda Silva, Vanessa Dos Reis Ferreira
Keywords: CDG, Congenital Disorders of Glycosylation, Qualitative study, Parents’ experience, Rare Diseases

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RFT1-CDG Infographic

Infographic
RFT1-CDG
Disorders (CDG Types): RFT1-CDG
Year: 2021
Authors: Marta Falcão, Carlota Pascoal, Ananías González, Maria Isabel Quiroga, Vanessa Dos Reis Ferreira
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, RFT1-CDG

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ALG9-CDG Infographic

Infographic
ALG9-CDG A2 POSTER_V03.thumbnail.png
Disorders (CDG Types): ALG9-CDG
Year: 2021
Authors: Sandra Brasil, Rita Francisco, Duncan Webster, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, ALG9-CDG

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ALG12-CDG Infographic

Infographic
ALG12
Disorders (CDG Types): ALG12-CDG
Year: 2021
Authors: Sandra Brasil, Rita Francisco, Duncan Webster, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, ALG12-CDG

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