Clinical and Basic Investigations into Congenital Disorders of Glycosylation


Define natural history, validate patient reported outcome and share knowledge on congenital disorders of glycosylation. We will recruit and enroll patients with CDG in this study evaluating clinical variation and natural history when a patient is being seen as part of routine clinical care.

I'm interested

Not specified
This study is NOT accepting healthy volunteers
Inclusion Criteria:

• Patients diagnosed with congenital disorders of glycosylation based on genetic confirmatory testing
Exclusion Criteria:

• Patients without congenital disorders of glycosylation

Congenital Disorders of Glycosylation

CDG, CDDG, Congenital Disorders of Glycosylation, Congenital Disorders of Deglycosylation, ALG1, ALG3, ALG6, ALG12, ALG13, COG6, DPAGT1, DPM1, EDEM3, MAN1B1, MPDU1, MPI, NGLY1, PGAP3, PGM1, PIGA, PIGG, PIGN, PIGS, PIGT, PMM2, SLC35A2, SLC35C1, SLC39A8, SRD5A3, SSR4, FUT8, GALNT2, MAN2B2, VMA21

Kyriakie Sarafoglou -
Kyriakie Sarafoglou
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