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

Cobalamin C defect associated with hemolytic-uremic syndrome.

The Journal of pediatrics - 1 Jun 1992

Geraghty M T, Perlman E J, Martin L S, Hayflick S J, Casella J F, Rosenblatt D S, Valle D

Abstract excerpt

We describe a female infant with typical features of the cobalamin C form of combined methylmalonic aciduria and homocystinuria who also had the hemolytic-uremic syndrome with thrombocytopenia, microangiopathic hemolytic anemia, hypertension, and renal failure. Review of this and other described cases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this...

Read the complete abstract on PubMed

Topics

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

Share to Genes, Recessive
Share to Homocystinuria
Share to Infant, Newborn

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

Share to Metabolism, Inborn Errors

Share to Phenotype

Share to Vitamin B 12

Source

Identifiers

PMID: 1593355
DOI: 10.1016/s0022-3476(05)81967-5

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 10 closest

Cobalamin C defect associated with hemolytic-uremic syndrome.PMID 1593355Read ↗

Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC.Semantic proximity Read ↗

Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children.Semantic proximity Read ↗

Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency.Semantic proximity Read ↗

Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review.Semantic proximity Read ↗

Hemolysis and hyperhomocysteinemia caused by cobalamin deficiency: three case reports and review of the literature.Semantic proximity Read ↗

Hemolytic uremic syndrome (HUS) secondary to cobalamin C (cblC) disorder.Semantic proximity Read ↗

Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuriaSemantic proximity Read ↗

Methylmalonic aciduria with homocystinuria: biochemical studies, treatment, and clinical course of a Cbl-C patient.Semantic proximity Read ↗

Late-onset thrombocytic microangiopathy caused by cblC disease: association with a factor H mutation.Semantic proximity Read ↗

Purpura fulminans in a newborn infant with galactosemia.Semantic proximity Read ↗

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