Research Highlights
Natural History Study of Hepatic Glycogen Storage Disease type IV and Comparison to Gbe1ys/ys Model
Researchers from the University of Texas Southwestern Medical Center (UT Southwestern) and the University of Tokyo have recently published an article describing the mechanistic pathways of APBD, Lafora Disease (LD), and RBCK1-Deficiency disease (RD) -- three glycogen storage disorders (GSDs). The study published in the journal Acta Neuropathologica presents novel biochemical and pathological firsts that enhance our understanding of APBD and inform efforts to develop effective therapies for this devastating disease.
Hot Off The Press: Development of the APBD-SQ, a novel patient-reported outcome for health-related quality of life in Adult Polyglucosan Body Disease
Clinicians and researchers from the New York University (NYU) Grossman School of Medicine, in collaboration with the APBD [Read More]
Understanding Polyglucosan Body Formation in APBD, Lafora Disease, and RBCK1-Deficiency Disease
Researchers from the University of Texas Southwestern Medical Center (UT Southwestern) and the University of Tokyo have recently published an article describing the mechanistic pathways of APBD, Lafora Disease (LD), and RBCK1-Deficiency disease (RD) -- three glycogen storage disorders (GSDs). The study published in the journal Acta Neuropathologica presents novel biochemical and pathological firsts that enhance our understanding of APBD and inform efforts to develop effective therapies for this devastating disease.
Proteomic Investigations of APBD: Insights into the Pathobiology of a Neurodegenerative Disorder
Researchers at the Cleveland Clinic have published their findings of a proteomic investigation of APBD that adds to our understanding of the disease’s underlying mechanism. The findings have been published in the scientific journal Frontiers in Neurology. Understanding the pathogenesis of ABPD is important for the development of effective APBD therapies.
Case Report: Expanding the Understanding of the APBD Continuum: Novel Presentations, Diagnostic Pitfalls, and Clinical Pearls
Researchers at Duke University and the University of São Paulo (Brazil) have published an enlightening case report describing the clinical course and diagnostic odyssey of seven individuals with APBD in the scientific journal Frontiers in Genetics.