Resources

The Portuguese Association for CDG, generated many resources in different languages in full collaboration with worldwide CDG families and professionals. In our blog we are continuously making available publications and related resources considered of major interest for CDG Community. Please visit it for further information.

VERY IMPORTANT, PLEASE READ IF YOU USE OUR RESOURCES OR DOCUMENTS:
All our work is publicly available to help the CDG community. Importantly, our resources are done by volunteers. If you use our resources, please refer to http://www.apcdg.com/resources.html as the source of information. This helps us to ensure that families and professionals know the original source of information. Additionally, you contribute to ensure that updated information reaches the entire community . Also, please note that these are educational resources (we do not authorize their use for other purposes). THANKS!

To better understand CDG:

Practical guide CDG
For families and professionals!

Download available in:
Bulgarian | Dutch | English | Portuguese | Spanish

Liver involvement in Congenital Disorders of Glycosylation (CDG)

A community friendly document
For families and professionals!

Download available in:
English

To increase CDG awareness at global level. These resources belong to the World CDG-AED program 2015-2017 (CDG - Awareness. Education. Diagnosis) .

The CDG Diagnostic Roadmap
POSTER A2 PRINT READY
If you wish this resource in A0 format please write to: worldcdgawareness@gmail.com

Download available in:
English

Other resources:

Appsolutely Engaging and Educational:
iPad Apps for Children with Visual Impairments and Special Needs

Download available in:
English

CDG awareness Kit:

CDG Awareness and dissemination kit

Authors: Vanessa Ferreira (President and founder of the Portuguese Association for CDG and related Rare Metabolic Diseases), Bas Holten (CDG advocate Netherlands) and Andrea Berarducci (CDG CARE President, Community and Parent Representative). All rights reserved. Copyright ©

Download available in:
English | French | Spanish

The CDG fairy-tale is available in 11 languages

Other resources

Reliable information about CDG:

Medical guideline for the diagnosis and treatment of CDG patients:
The document is freely accessible HERE

Reports:

About CDG:

NORD report done by Jaak Jaeken, MD, PhD, Em. Professor of Pediatrics, Center for Metabolic Disease, University Hospital Gasthuisberg, Belgium

About Congenital Disorders of N-linked Glycosylation Pathway Overview

Chapter at GeneReviews written by Susan E Sparks, MD, PhD and Donna M Krasnewich, MD, PhD. :

Chapter on Genetic Disorders of Glycosylation at Essentials of Glycobiology. 2nd edition written by Freeze HH, Schachter H.

About PMM2-CDG:

NORD report done by Hudson Freeze, PhD, Professor and Director, Genetic Disease Program, Sanford Children's Health Research Center, Sanford-Burnham Medical Research Institute.

Chapter at GeneReviews written by Susan E Sparks, MD, PhD and Donna M Krasnewich, MD, PhD. :

Search for scientific and medical information on CDG:

Enter the CDG type to search at the following reliable sources of information:

PUBMED is a free resource that comprises over 25 million citations for biomedical literature from MEDLINE, life science journals, and online books.
Europe PubMed Central (Europe PMC) is an archive of life sciences journal literature.
OMIM: is a comprehensive, authoritative compendium of human genes and genetic phenotypes that is freely available and updated daily.
MedGen: Organizes information related to human medical genetics, such as attributes of conditions with a genetic contribution
Orphanet:

Search engines that can help diagnosis:

FindZebra is a specialised search engine supporting medical professionals in diagnosing rare diseases.
CrowdMed is a medical crowdsourcing has helped solve hundreds of difficult medical cases. Their online medical diagnosis experts are ready to help.