J Pediatr. 1992 Jun;120(6):934-7.

Cobalamin C defect associated with hemolytic-uremic syndrome.

Geraghty MT, Perlman EJ, Martin LS, Hayflick SJ, Casella JF, Rosenblatt DS, Valle D.

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Department of Pediatrics, Howard Hughes Medical Institute, Johns Hopkins University School of Medicine, Baltimore, Maryland 21205.

Abstract

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 inborn error of cobalamin metabolism.

PMID:: 1593355; [PubMed - indexed for MEDLINE]

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Cobalamin C defect associated with hemolytic-uremic syndrome.
Cobalamin C defect associated with hemolytic-uremic syndrome.
J Pediatr. 1992 Jun ;120(6):934-7.

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J Am Soc Nephrol. 2005 Jul ;16(7):2150-5. Epub 2005 May 25 .

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