Glycogen Storage Disease: Expert Opinion on Clinical Diagnosis Revisited after Molecular Testing.

ABSTRACT: This study sought to analyze whether an accurate diagnosis of the type and subtype of hepatic Glycogen Storage Diseases (GSDs) could be performed based on general clinical and biochemical aspects via comparing the proposed diagnostic hypotheses with the molecular results. Twelve physicians with experience in hepatic GSDs reviewed 45 real cases comprising a standardized summary of clinical and laboratory data. There was no relation between the hit rate and the time since graduation, the time of experience in GSD, and the number of patients treated during their careers. The average assertiveness was 47%, with GSD Ia and Ib being the best-identified types, while no expert correctly identified GSD IXc. Underage investigation for later manifestations, incomplete clinical description, and comple

SUBMITTER: de Marchi R 

PROVIDER: S-EPMC10743078 | biostudies-literature | 2023 Dec

REPOSITORIES: biostudies-literature