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

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.

European journal of human genetics : EJHG - 1 Oct 2023

Hadar Noam, Schreiber Ruth, Eskin-Schwartz Marina, Kristal Eyal, Shubinsky George, Ling Galina, Cohen Idan, Geylis Michael, Nahum Amit, Yogev Yuval, Birk Ohad S

Abstract excerpt

Hemolytic-uremic syndrome (HUS), mostly secondary to infectious diseases, is a common cause of acute kidney injury in children. It is characterized by progressive acute kidney failure due to severe thrombotic microangiopathy, associated with nonimmune, Coombs-negative hemolytic anemia and thrombocytopenia. HUS is caused mostly by Shiga toxin-producing E. Coli, and to a lesser extent by Streptococcus pneumonia. In...

Read the complete abstract on PubMed

Topics

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

Share to Atypical Hemolytic Uremic Syndrome
Share to Child

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Escherichia coli

Share to Molecular Chaperones

Share to Mutation

Share to Pneumonia

Source

Open in PubMed Open full text

Identifiers

PMID: 36599939
DOI: 10.1038/s41431-022-01278-5
PMCID: PMC10545727

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

X-linked C1GALT1C1 mutation causes atypical hemolytic uremic syndrome.PMID 36599939Read ↗

Genetics of atypical hemolytic uremic syndrome (aHUS).Semantic proximity Read ↗

Genetics of hemolytic uremic syndromes.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome: Laboratory characteristics, complement-amplifying conditions, renal biopsy, and genetic mutations.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome: update on the complement system and what is new.Semantic proximity Read ↗

Atypical haemolytic uraemic syndrome: a case of rare genetic mutation.Semantic proximity Read ↗

Familial atypical hemolytic uremic syndrome: a review of its genetic and clinical aspects.Semantic proximity Read ↗

[Atypical hemolytic uremic syndrome].Semantic proximity Read ↗

[Atypical HUS caused by complement-related abnormalities].Semantic proximity Read ↗

An update for atypical haemolytic uraemic syndrome: Diagnosis and treatment. A consensus documentSemantic proximity Read ↗

A review of genetic and epigenetic biomarkers involved in the occurrence of atypical hemolytic uremic syndrome and its therapeutic strategies.Semantic proximity Read ↗

Germline C1GALT1C1 Mutation Causes a Multisystemic Chaperonopathy with Global Deficiency of Core 1-derived O-GlycosylationSemantic proximity Read ↗

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