| Abstrakt: |
A recent study from Duke University Medical Center explores the understanding of adult polyglucosan body disease (APBD), a form of glycogen storage disease type IV (GSD IV) caused by specific genetic variants. The study challenges the traditional descriptors of APBD and highlights the need for a broader understanding of the disease in diverse populations. The researchers describe seven cases of APBD, including three American and four Brazilian patients, and discuss the clinical course and diagnostic challenges they faced. The study emphasizes the importance of patient-reported outcome measures and raises awareness about the limitations of genetic testing methods in diagnosing APBD. [Extracted from the article] |
