Resource Type

Article

Year

2022

Disorder / CDG Type

All CDGs

Abstract

Congenital disorders of glycosylation (CDG) are a large heterogeneous group of about 170 rare inherited metabolic disorders due to defective protein and lipid glycosylation. This study aimed to assemble and summarise available data on the epidemiology of CDG

Authors

Ana Piedade
Vanessa Dos Reis Ferreira
Rita Francisco
Jaak Jaeken
Peymaneh Sarkhail
Sandra Brasil
Carlos R. Ferreira
Tatiana Rijof
Carlota Pascoal
Alexandre Gil
Ana Beatriz Lourenço
Marta Abreu
Mafalda Gomes
Paula A. Videira

Keywords

CDG
Congenital Disorders of Glycosylation
Epidemiology
Glycosylation
Prevalence
Frequency
Incidence
Pathogenic variants
Allelic frequency
Literature review

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