Congenital disorders of glycosylation and the challenge of rare diseases

Published: Aug 2, 2019
Abstract
The congenital disorders of glycosylation are a diverse group of disorders, which present both common and unique challenges in the diagnosis of rare disorders. These disorders affect a variety of structures and processes in their synthesis. Studies by Himmelreich and by Ng and their coworkers are discussed as they exemplify the extremes of such challenges. These include ascertainment bias associated with the recognition of only extreme...
Paper Details
Title
Congenital disorders of glycosylation and the challenge of rare diseases
Published Date
Aug 2, 2019
Citation AnalysisPro
  • Scinapse’s Top 10 Citation Journals & Affiliations graph reveals the quality and authenticity of citations received by a paper.
  • Discover whether citations have been inflated due to self-citations, or if citations include institutional bias.