Liver Glycogenosis and Cataracts in a Mentally Deficient Child
نویسنده
چکیده
After van Creveld (1928) had given the first clinical description of a child with glycogenosis and suggested that the primary cause could be a disorder of glycogen metabolism, this hypothesis was confirmed. Six types have already been described, each of which show a different enzyme defect and a different clinical picture. By means of a simplified scheme of glycogen synthesis and breakdown, these types with their enzyme defects are set out below.
منابع مشابه
Liver glycogenosis and cataracts in a mentally deficient child.
After van Creveld (1928) had given the first clinical description of a child with glycogenosis and suggested that the primary cause could be a disorder of glycogen metabolism, this hypothesis was confirmed. Six types have already been described, each of which show a different enzyme defect and a different clinical picture. By means of a simplified scheme of glycogen synthesis and breakdown, the...
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