/glycogen storage disease type 1 due to SLC37A4 mutation

glycogen storage disease type 1 due to SLC37A4 mutation

Rare Disease

MONDO:0023258

Also Known As

G6P translocase deficiencySLC37A4 glycogen storage disease Iglucose-6-phosphate translocase deficiencyglycogen storage disease I caused by mutation in SLC37A4

Definition

Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene.

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External Resources

GARD

GARD:2501 ↗

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