The glycome describes the complete repertoire of glycoconjugates composed of
carbohydrate chains, or glycans, that are covalently linked to lipid or protein molecules …

The survey summarizes in its first part the current status of knowledge on the Congenital
Disorders of Glycosylation (CDG) with regard to their phenotypic spectrum, diagnostic and …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-
disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an …

Cas13 can be used for the knockdown, editing, imaging or detection of RNA and for RNA-
based gene therapy. Here by using RNA immunoprecipitation sequencing, transcriptome …

The neonatal fragment crystallizable (Fc) receptor (FcRn) functions as a recycling
mechanism to prevent degradation and extend the half-life of IgG and albumin in the …

Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …

Congenital disorders of glycosylation (CDG) are a group of clinically heterogeneous
disorders characterized by defects in the synthesis of glycans and their attachment to …

Viruses are intracellular parasites that subvert the functions of their host cells to accomplish
their infection cycle. The endoplasmic reticulum (ER)-residing chaperone proteins are …

Starting about 60 years ago, a number of reports appeared that outlined the severe clinical
course of a few adult subjects with profound hypogammaglobinemia. Puzzled by the lack of …

Many viruses require the host endoplasmic reticulum protein-folding machinery in order to
correctly fold one or more of their glycoproteins. Iminosugars with glucose stereochemistry …