Successful intrauterine treatment of a patient with cobalamin C defect

Successful intrauterine treatment of a patient with cobalamin C defect

Cobalamin C (cblC) defect is an inherited autosomal recessive disorder that affects cobalamin metabolism. Patients are treated with hydroxycobalamin to ameliorate the clinical features of early-onset disease and prevent clinical symptoms in late-onset disease. Here we describe a patient in whom pren...

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Bibliographic Details
Main Authors: Friedrich K. Trefz, Dagmar Scheible, Georg Frauendienst-Egger, Martina Huemer, Terttu Suomala, Brian Fowler, Dorothea Haas, Matthias R. Baumgartner
Format: Article
Language:English
Published: Elsevier 2016-03-01
Series:Molecular Genetics and Metabolism Reports
Subjects:
Cobalamin C defect
Inborn error of metabolism
Hydroxycobalamin
Intrauterine treatment
Homocysteine
Online Access:http://www.sciencedirect.com/science/article/pii/S2214426916300052

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http://www.sciencedirect.com/science/article/pii/S2214426916300052

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