Hepatic storage of glycogen in Niemann-Pick disease type B.
case_report · Level V
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Abstract
We report 2 patients with confirmed Niemann-Pick disease, type B, with previous diagnoses of glycogen storage disease based on excessive glycogen on liver biopsy specimens. These cases emphasize the importance of a complete evaluation, including biochemical confirmation, for patients with suspected metabolic storage diseases.
Medical subject headings
- Liver
- Liver Glycogen
- Niemann-Pick Diseases