单词 | glycogen storage disease ic |
释义 | glycogen storage disease Icglycogen storage disease IcMetabolic disease A rare AR metabolic disorder caused by mutations in glucose-6-phosphate translocase gene Clinical Impaired carbohydrate tolerance, glycosuria, neutropenia, neutrophil dysfunction, hypoglycemia, hepatomegaly, fasting intolerance, ↑ lactic acid, recurrent infections, stomatitis, IBD |
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