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中文Glycogen Storage Disease Ii (GSD2)
Alias:
Glycogen Storage Disease Type Ii
Acid Maltase Deficiency
Pompe Disease
Gaa Deficiency
Gsd Ii
Acid Alpha-Glucosidase Deficiency
Glycogen Storage Disease, Type Ii
Alpha-1,4-Glucosidase Deficiency
Glycogenosis Type Ii
Pompe's Disease
Gsd2
Amd
Glycogen Storage Disease 2
Generalized Glycogen Storage Disease of Infants
Lysosomal Alpha-1,4-Glucosidase Deficiency
Cardiac Form of Generalized Glycogenosis
Glycogenosis, Generalized, Cardiac Form
Glycogenosis Generalized Cardiac Form
Storage Disease, Glycogen, Type Ii
Cardiomegalia Glycogenica Diffusa
Acid Maltase Deficiency Disease
Deficiency of Alpha-Glucosidase
Deficiency of Glucoamylase
Cardiomegalia Glycogenica
Generalized Glycogenosis
Deficiency of Maltase
Glycogenosis, Type 2
Glycogenosis Ii
Gsd-Ii
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糖原贮积病II，也称为糖原贮积病II型，与Danon病、肌酸激酶升高和血清升高有关，症状包括呼吸困难和虚弱。与糖原贮积病II相关的基因是GAA（α-葡萄糖苷酶），其相关通路/超级通路包括糖原代谢和mTOR通路。在该疾病的背景下，已经提到了硼替佐米和沙丁胺醇。相关组织包括心脏和肝脏，相关表型为肌肉无力和肌肉糖原含量增加。
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Basic Information
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Reference
MALACARDS
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HPO Frequency
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MGI
Related Gene
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