| Literature DB >> 1593355 |
M T Geraghty1, E J Perlman, L S Martin, S J Hayflick, J F Casella, D S Rosenblatt, D Valle.
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.Entities:
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Year: 1992 PMID： 1593355 DOI： 10.1016/s0022-3476(05)81967-5
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406