CDG & Allies - Professionals and Patient Associations International Network (CDG & Allies- PPAIN)
Where families’ own needs and ideas are transformed into research projects.

If you'd like to receive a full copy of any of these papers, please write to sindromecdg@gmail.com 

Scientific Publications:

19/07/2017
This literature review summarizes cardiac involvement, reported in 20% of CDG.
CDG with cardiac involvement were divided according to the associated type of glycosylation: N-glycosylation, O-glycosylation, dolichol synthesis, glycosylphosphatidylinositol (GPI)-anchor biosynthesis, COG complex, V-ATPase complex, and other glycosylation pathways.

​The aim of this review was to document and interpret the incidence of heart disease in CDG patients. Heart disorders were grouped into cardiomyopathies, structural defects, and arrhythmogenic disorders. 

​You can find the abstract HERE  and order the complete article HERE.
  • HEPATOLOGY
Liver involvement in congenital disorders of glycosylation (CDG).  A systematic review of the literature
20/01/2017
Liver is among the affected organs in CDG Patients.
In this review, CDG are divided into major and minor categories in terms of severity and frequency of liver disease.  
  • CDG with major liver involvement: MPI-CDG, TMEM199-CDG, CCDC115-CDG, and ATP6AP1-CDG
  • CDG with minor liver involvement: PMM2-CDG, ALG1-CDG, ALG3-CDG, ALG6-CDG, ALG8-CDG, ALG9-CDG, PGM1-CDG, and COG-CDG. 
​You can find the abstract HERE and order the complete article HERE
  • IMMUNOLOGY
Immunological aspects of congenital disorders of glycosylation (CDG): A review
28/09/2016
This review article focuses on the aspects of immunological affectation and deregulation in CDG Patient.
You can find the abstract HERE  and order the complete article HERE.

CONFERENCES

SPDM2016​

SPDM2017​

SSIEM 2016

International CDG Scientific Symposium

International CDG Scientific Symposium

International CDG Scientific Symposium

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