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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Detalles Bibliográficos
Autores principales: Trefz, Friedrich K., Scheible, Dagmar, Frauendienst-Egger, Georg, Huemer, Martina, Suomala, Terttu, Fowler, Brian, Haas, Dorothea, Baumgartner, Matthias R.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789385/
https://www.ncbi.nlm.nih.gov/pubmed/27014578
http://dx.doi.org/10.1016/j.ymgmr.2016.01.005

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4789385/
https://www.ncbi.nlm.nih.gov/pubmed/27014578
http://dx.doi.org/10.1016/j.ymgmr.2016.01.005

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