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智能减退、酮症酸中毒、凝血功能障碍、对称性肌无力、生长缓慢、血脂异常、乳酸蓄积过多、肝脏肿大
Glycogen storage disease type IX in children is phosphorylase kinase deficiency; hepatomegaly; growth delay; mild hypoglycemia; children; X-linked/AR; PHKA2; diet; pediatric metabolic.
Hepatomegaly; growth delay; mild hypoglycemia; child; X-linked/AR; PHKA2; diet
PHKA2 mutation; X-linked; phosphorylase kinase deficiency; GSD IX; child.
Cornstarch; frequent feeds; pediatric metabolic/genetics; improves with age
Pediatrics / metabolic / medical genetics.
Warm reminder: Health education reference only; seek care at regular hospital.
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