Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
MONDO:0017698Also known as: GBE deficiency, congenital neuromuscular form, GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form, GSD type 4, congenital neuromuscular form, GSDIV, congenital neuromuscular form, glycogen storage disease type 4, congenital neuromuscular form, glycogen storage disease type IV, congenital neuromuscular form, glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form, glycogenosis type 4, congenital neuromuscular form
1 clinical trial for this condition and its sub-types.
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Disease
(680)
Metabolic disease
(233)
Hereditary disease
(176)
Inborn errors of metabolism
(45)
Disorder of glycogen metabolism
(14)
Human disease
(14)
Carbohydrate metabolism disease
(3)
Disease of genetic or genomic mechanism
(2)
Glycogen storage disease due to glycogen branching enzyme deficiency
(2)
Inborn carbohydrate metabolic disorder
(2)