单词 | glycogen storage disease ib |
释义 | glycogen storage disease Ibglycogen storage disease IbGlucose-6-phosphate transport defect Metabolic disease An AR metabolic disorder due to mutation in the microsomal transport system for glucose-6-phosphatase in hepatocytes Clinical Growth failure, hypoglycemia, lactic acidosis, oral and anal lesions, chronic IBD, neutropenia, recurrent infections, impaired neutrophil chemotaxis and metabolism Treatment GM-CSF may reverse Sx |
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