TY - JOUR
T1 - Cobalamin C defect associated with hemolytic-uremic syndrome
AU - Geraghty, Michael T.
AU - Perlman, Elizabeth J.
AU - Martin, Laura S.
AU - Hayflick, Susan J.
AU - Casella, James F.
AU - Rosenblatt, David S.
AU - Valle, David
N1 - Copyright:
Copyright 2014 Elsevier B.V., All rights reserved.
PY - 1992/6
Y1 - 1992/6
N2 - We desciribe 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 failur. Review of this and other described aases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.
AB - We desciribe 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 failur. Review of this and other described aases of the cobalamin C defect suggests that the hemolytic-uremic syndrome is part of the phenotypic spectrum of this inborn error of cobalamin metabolism.
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U2 - 10.1016/S0022-3476(05)81967-5
DO - 10.1016/S0022-3476(05)81967-5
M3 - Article
C2 - 1593355
AN - SCOPUS:0026594251
SN - 0022-3476
VL - 120
SP - 934
EP - 937
JO - The Journal of pediatrics
JF - The Journal of pediatrics
IS - 6
ER -