Resource Library | World CDG Organization

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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MAN1B1-CDG Infographic

Infographic

Disorders (CDG Types): MAN1B1-CDG
Year: 2021
Authors: Rita Francisco, Sandra Brasil, Emma Finklaire, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, MAN1B1-CDG(MRT15), MAN1B1-CDG

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SLC39A8-CDG Infographic

Infographic

Disorders (CDG Types): SLC39A8-CDG
Year: 2021
Authors: Marta Falcão, Carlota Pascoal, Michael & Lilah Labovitz, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, SLC39A8-CDG

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Artificial Intelligence in Epigenetic Studies: Shedding Light on Rare Diseases

Article

More than 7,000 rare diseases (RDs) exist worldwide, affecting approximately 350 million people, out of which only 5% have treatment. The development of novel genome sequencing techniques has accelerated the discovery and diagnosis in RDs. However, most patients remain undiagnosed.

Disorders (CDG Types): All CDGs
Year: 2021
Authors: Sandra Brasil, Cátia José Neves, Tatiana Rijof, Marta Falcão, Gonçalo Valadão, Paula A Videira, Vanessa Dos Reis Ferreira
Languages: English
Keywords: CDG, Congenital Disorders of Glycosylation, epigenetics, epigenomic, Artificial Intelligence, Machine Learning, Personalized Medicine, Rare Diseases, RD

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NANS-CDG Infographic

Infographic

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

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PIGN-CDG Infographic

Infographic

Disorders (CDG Types): Fryns syndrome, Multiple congenital anomalies-hypotonia-seizures syndrome 1
Year: 2021
Authors: Rita Francisco, Kerry Blondheim, Dorota Cimiega, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation

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COG6-CDG Infographic

Infographic

Disorders (CDG Types): COG6-CDG
Year: 2021
Authors: Sandra Brasil, Rita Francisco, Jeanette Gustavsson, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, COG6-CDG

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SLC35A2-CDG Infographic

Infographic

Disorders (CDG Types): SLC35A2-CDG
Year: 2021
Authors: Rita Francisco, Sandra Brasil, Christine Jardine, Vanessa Dos Reis Ferreira, Prof. Jaak Jaeken
Languages: English, Italian, Portuguese, Spanish
Keywords: CDG, Congenital Disorders of Glycosylation, SLC35A2-CDG

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