Mitochondrial Neurogastrointestinal Encephalomyopathy Treated with Stem Cell Transplantation: A Case Report and Review of Literature
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is a rare autosomal recessive disorder. The mutation in the ECGF1 gene causes severe deficiency of thymidine phosphorylase (TP), which in turn increases thymidine and deoxyuridine in the blood, serum, and tissue. The toxic levels of these...
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| Hlavní autoři: | , , , , |
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| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Wolters Kluwer Medknow Publications
2015-04-01
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| Edice: | Hematology/Oncology and Stem Cell Therapy |
| Témata: | |
| On-line přístup: | https://journals.lww.com/10.1016/j.hemonc.2014.12.001 |
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