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PGM1-congenital disorder of glycosylation

Just diagnosed with PGM1-congenital disorder of glycosylation?

You are not alone. Here is where to start: learn the basics, find a specialist or center that sees PGM1-congenital disorder of glycosylation, look for clinical trials, and connect with others living with it — all in one place.

Open the full PGM1-congenital disorder of glycosylation hub →

Overview

PGM1-congenital disorder of glycosylation is a rare condition. Also known as CDG syndrome type It, CDG-It, CDG1T, Congenital disorder of glycosylation type 1t, Congenital disorder of glycosylation type It, PGM1-related congenital disorder of glycosylation, Phosphoglucomutase-1 deficiency. Tomeko brings together the specialists, research, clinical trials, treatments and community for PGM1-congenital disorder of glycosylation so you can go from overwhelmed to oriented. For authoritative medical detail, see the reference sources below.

Identifiers: ORPHA:319646 · OMIM 614921 · ICD-10 E77.8 · GARD 0004329

Find care for PGM1-congenital disorder of glycosylation

Authoritative references for PGM1-congenital disorder of glycosylation

Common questions

I was just diagnosed with PGM1-congenital disorder of glycosylation — what should I do first?

Start by learning the basics from an authoritative source, find a specialist or center that sees PGM1-congenital disorder of glycosylation, and connect with a patient organization. Tomeko brings these together on one hub.

Where can I find a specialist for PGM1-congenital disorder of glycosylation?

Use Tomeko's specialist and Centers-of-Excellence directories to find clinicians who treat PGM1-congenital disorder of glycosylation, filtered to your area.

Are there clinical trials for PGM1-congenital disorder of glycosylation?

Tomeko shows live, recruiting studies for PGM1-congenital disorder of glycosylation from ClinicalTrials.gov on the hub.

Informational only — not medical advice. Always consult a qualified clinician. Provider and reference data from public sources (NIH GARD, Orphanet, OMIM, HPO, MONDO, ClinicalTrials.gov, CMS NPPES). © Tomeko · tomekohealth.com