Quantification of Plasma and Urine Thymidine and 2’-Deoxyuridine by LC-MS/MS for the Pharmacodynamic Evaluation of Erythrocyte Encapsulated Thymidine Phosphorylase in Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an ultra-rare disorder caused by mutations in TYMP, leading to a deficiency in thymidine phosphorylase and a subsequent systemic accumulation of thymidine and 2’-deoxyuridine. Erythrocyte-encapsulated thymidine phosphorylase (EE-TP) is...

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Gepubliceerd in:J Clin Med
Hoofdauteurs: Kipper, Karin, Hecht, Max, Antunes, Natalicia J., Fairbanks, Lynette D., Levene, Michelle, Kalkan Uçar, Sema, Schaefer, Andrew, Blakely, Emma L., Bax, Bridget E.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: MDPI 2020
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Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7141342/
https://ncbi.nlm.nih.gov/pubmed/32183169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/jcm9030788
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