Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency

Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency(来自ICD-11)
别称:
Glycogen Storage Disease Type I
Glycogenosis Type 1
Glycogen Storage Disease Due to G6p Deficiency
Glycogen Storage Disease Type Ia
Glycogen Storage Disease Type 1
Gsd Due to G6p Deficiency
Hepatorenal Glycogenosis
Glycogenosis Type I
Von Gierke Disease
G6p Deficiency
Gsd Type I
Gsd Type 1
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Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency, also known as glycogen storage disease type i, is related to glycogen storage disease ia and glycogen storage disease, and has symptoms including intermittent diarrhea An important gene associated with Glycogen Storage Disease Due to Glucose-6-Phosphatase Deficiency is G6PC1 (Glucose-6-Phosphatase Catalytic Subunit 1), and among its related pathways/superpathways are Glycosaminoglycan metabolism and Diseases of glycosylation. The drugs Prednisolone and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver and kidney, and related phenotypes are seizure and hypotonia
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MALACARDS
AR
Newborn
1-9/100000
2
16
105

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