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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...

Topics

Female
Genes, Recessive
Hemolytic-Uremic Syndrome
Homocystinuria
Humans
Infant, Newborn
Metabolism, Inborn Errors
Methylmalonic Acid
Phenotype
Vitamin B 12

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

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

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1593355-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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