1.
Clin Case Rep
; 11(5): e7318, 2023 May.
Artículo
en Inglés
| MEDLINE
| ID: mdl-37151946
RESUMEN
Glycogen storage diseases (GSDs) are rare autosomal disorders that result from defects in glycogen metabolism. There are more than 12 types, each with distinct clinical features. Clinical scenario, biochemical abnormalities are useful for suspicion whereas liver biopsy and enzyme assay provides definite diagnosis. We report a case of two sisters with similar clinical symptoms suggestive of the disease.