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

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

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 expe...

Full description

Bibliographic Details
Main Authors: Rafael de Marchi, Tatiele Nalin, Fernanda Sperb-Ludwig, Franciele Cabral Pinheiro, Ida Vanessa Doederlein Schwartz, Carlos Eduardo Steiner
Format: Article
Language:English
Published: MDPI AG 2023-12-01
Series:Genes
Subjects:
inherited errors of metabolism
Glycogen Storage Disease
next-generation sequencing
clinical manifestations
clinical diagnosis
expert opinion
Online Access:https://www.mdpi.com/2073-4425/14/12/2219

Internet

https://www.mdpi.com/2073-4425/14/12/2219

Similar Items