English (United Kingdom)

https://curated-unify.zendy.io/wp-json/zendy-region/v1/featured_content/oa?rat=en

https://curated-unify.zendy.io/wp-json/zendy-region/v1/highlighted_journal/

Global: Zendy Plus annual

Presents the access of premium content as premium feature

Premium Content

Presents the keyphrase highlighting as premium feature

Keyphrase Highlighting

Presents the summarisation as premium feature

Summarisation

Insights

Presents the pdf analysis as premium feature

PDF Analysis

Presents the zaia usage as premium feature

ZAIA

Global: Zendy Tools annual

Global: Zendy Free Plan

Global: Zendy Tools monthly

Global: Zendy Plus monthly

arrhythmia. GSDI or vonGierke’s disease is the most comhe history of Glycogen Storage Diseases (GSDs) begins in the 920s with the fascinating anatomical description of individals afflicted by the association of organ hypertrophy and evere metabolic derangements during infancy.1 The early bservations made on this group of patients by Van Creveld, onGieke and Pompe paved the way for the understanding of a ew group of childhood diseases characterized by the inherent nability of “complete glycogen combustion”. The body’s lack f access to the energy released by the degradation of glycoen led to its accumulation in tissues, in some limited to the iver and kidneys, and in others to the heart and peripheral uscles. Admirably, it was recognized at the time that this as in fact a heterogeneous group of anomalies with complex tiology and no foreseeable treatment. The brilliant concluions made by these investigators in the early days from such imited information were later corroborated by the discovery f the metabolic steps required in the synthesis and degradaion of glycogen.2 Today, almost a century later, much is known about the ndividual enzymatic deficiency of all known GSDs and the etabolic consequences if left untreated. However, the accuate diagnosis of GSDs involves detailed examination of signs nd symptoms and the selection of appropriate biochemical nd genetic testing. This can be particularly challenging in

Inborn errors of metabolism and anesthesia; so far, yet so close