Resource Library | World CDG Organization

RFT1-CDG Infographic

Infographic

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

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

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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ALG11-CDG Infographic

Infographic

Disorders (CDG Types): ALG11-CDG
Year: 2021
Authors: Sandra Brasil, Rita Francisco, Shannon Willardson, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, ALG11-CDG

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SSR4-CDG Infographic

Infographic

Disorders (CDG Types): SSR4-CDG
Year: 2021
Authors: Marta Falcão, Carlota Pascoal, Andrew, Wanda and Marta Kadziolka, Tatiana Soffiati, Andrew Edmondson, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, SSR4-CDG

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GMPPA-CDG Infographic

Infographic

Disorders (CDG Types): GMPPA-CDG
Year: 2021
Authors: Rita Francisco, Sandra Brasil, Heather Ross Parente, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, GMPPA-CDG

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PIGG-CDG Infographic

Infographic

Disorders (CDG Types): PIGG-CDG
Year: 2021
Authors: Rita Francisco, Carlota Pascoal, Marta Sanchéz, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, PIGG-CDG

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MPI‐CDG from a hepatic perspective: Report of two Egyptian cases and review of literature

Article

MPI‐CDG is a rare congenital disorder of glycosylation (CDG) which presents with hepato‐gastrointestinal symptoms and hypoglycemia. We report on hepatic evaluation of two pediatric patients who presented to us with gastrointestinal symptoms. Analysis of carbohydrate deficient transferrin (CDT) showed a Type 1 pattern and molecular analysis confirmed the diagnosis of MPI‐CDG.

Disorders (CDG Types): MPI-CDG
Year: 2020
Authors: Tawhida Y Abdel Ghaffar, Bobby G Ng, Solaf M Elsayed, Suzan El Naghi, Sarah Helmy, Nermine Mohammed, Ahmed El Hennawy, Hudson H Freeze
Keywords: CDG, Congenital Disorders of Glycosylation, genetic variants, liver involvement, mannose, MPI‐CDG, portal hypertension

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

Article

Disorders (CDG Types): All CDGs
Year: 2020
Authors: Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Sandra Brasil, Fernando M. Pimentel-Santos , Ruqaiah Altassan, Jaak Jaeken, Ana Rita Grosso , Vanessa Dos Reis Ferreira, Paula A. Videira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, PMM2-CDG, immune response, infections, allergies, vaccination, gastrointestinal tract GI, e-questionnaire, People-centricity

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

Article

Phosphoglucomutase 1 (PGM1) deficiency is a rare genetic disorder that affects glycogen metabolism, glycolysis, and protein glycosylation. Previously known as GSD XIV, it was recently reclassified as a congenital disorder of glycosyla- tion, PGM1-CDG. PGM1-CDG usually manifests as a multisystem disease.

Disorders (CDG Types): All CDGs
Year: 2020
Authors: Ruqaiah Altassan, Silvia Radenkovic, Andrew C. Edmondson, Rita Barone, Sandra Brasil, Anna Cechova, David Coman, Sarah Donoghue, Kristina Falkenstein, Vanessa Dos Reis Ferreira, Carlos R Ferreira, Agata Fiumara, Rita Francisco, Hudson Freeze, Stephanie Grünewald, Tomas Honzik, Jaak Jaeken, Donna Krasnewich, Christina Lam, Joy Lee, Dirk Lefeber, Dorinda Marques-da-Silva, Carlota Pascoal, Dulce Quelhas, Kimiyo M. Raymond, Daisy Rymen, Malgorzata Seroczynska, Mercedes Serrano, Jolanta Sykut-Cegielska, Christian Thiel, Frederic Tort, Mari-Anne Vals, Paula A Videira, Nicol Voermans, Peter Witters, Eva Morava
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, D-galactose, management guidelines, PGM1-CDG, phosphoglucomutase 1 deficiency

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