Article

Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in Cuba

2024-04-15

Abstract excerpt

Glycosylation, the most significant modification of proteins, plays an essential role in cellular processes. Congenital disorders of glycosylation (CDG) are multisystemic diseases resulting from mutations affecting glycosylation steps. Diagnosis of CDG relies on biochemical assays, such as isoelectric focusing. Despite its significance, CDG cases remain unreported in Cuba due to the lack of implemented diagnostic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 6bd6bfa4-fa7d-5937-8098-c6e28ff171d2
DOI: 10.20944/preprints202404.0893.v1

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Landmark Evaluation of Transferrin Glycoforms: Pioneering Congenital Glycosylation Disorder Diagnosis in CubaDOI 10.20944/preprints202404.0893.v1Read

Insights into complexity of congenital disorders of glycosylation.Semantic proximity Read

Congenital disorders of glycosylation: new defects and still counting.Semantic proximity Read

Advancement in Clinical Glycomics and Glycoproteomics for Congenital Disorders of Glycosylation: Progress and Challenges AheadSemantic proximity Read

Phenotypic and genotypic spectrum of congenital disorders of glycosylation type I and type II.Semantic proximity Read

Solving glycosylation disorders: fundamental approaches reveal complicated pathways.Semantic proximity Read

Update and perspectives on congenital disorders of glycosylation.Semantic proximity Read

Transferrin mutations at the glycosylation site complicate diagnosis of congenital disorders of glycosylation type I.Semantic proximity Read

A Population-Based Study on Congenital Disorders of Protein N- and Combined with O-Glycosylation Experience in Clinical and Genetic Diagnosis.Semantic proximity Read

Diagnosis of Congenital Disorders of Glycosylation Type II Subtypes Through Comprehensive N-Glycan Profiling by Mass Spectrometry.Semantic proximity Read

Clinical and biochemical footprints of congenital disorders of glycosylation: Proposed nosologySemantic proximity Read

Congenital defects of glycosylation: Novel presentations with mainly neurological involvement and variable dysmorphic features.Semantic proximity Read

Human glycosylation disorders.Semantic proximity Read