Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.

BMC research notes - 17 Apr 2023

Sabry Sahar, Eissa Noura R, Zaki Maha S

Abstract excerpt

OBJECTIVE: The study of the impact of some inherited defects in glycosylation on the biosynthesis of some lysosomal glycoproteins. Results description: Whole-exome sequencing revealed a homozygous variant; 428G > A; p. (R143K) in SRD5A3 in one patient and a heterozygous one c.46G > A p. (Gly16Arg) in SLC35A2 in the other patient. Both variants were predicted to be likely pathogenic. Lysosome-associated membrane...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Congenital Disorders of Glycosylation
Share to Glycoproteins
Share to Glycosylation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Homozygote

Share to Lysosomes

Share to Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 37069668
DOI: 10.1186/s13104-023-06314-1
PMCID: PMC10108535

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Abnormal expression of lysosomal glycoproteins in patients with congenital disorders of glycosylation.PMID 37069668Read ↗

Congenital disorders of glycosylation: Still "hot" in 2020.Semantic proximity Read ↗

Congenital disorders of glycosylationSemantic proximity Read ↗

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

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

Immunological aspects of congenital disorders of glycosylation (CDG): a review.Semantic proximity Read ↗

Clinical and genetic characterization of congenital disorders of glycosylation in 20 Chinese patientsSemantic proximity Read ↗

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

What is new in CDG?Semantic proximity Read ↗

Clinical and genetic characterization of Congenital disorders of glycosylation in 20 Chinese patients: novel variants and genotype-phenotype correlationsSemantic proximity Read ↗

Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.Semantic proximity Read ↗

Congenital disorders of glycosylation--a challenging group of IEMs.Semantic proximity Read ↗

Congenital disorders of glycosylation: The Saudi experience.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.