Biochemical abnormalities in a patient with thymidine phosphorylase deficiency with fatal outcome

Deficiency of the cytosolic enzyme thymidine phosphorylase (TP) causes a multisystem disorder called mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) syndrome. Clinical symptoms are gastrointestinal dysfunction, muscle involvement and neurological deterioration. TP deficiency is biochem...

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Detalles Bibliográficos
Autores principales: Bakker, Jaap A., Schlesser, Patrick, Smeets, Hubert J. M., Francois, Baudouin, Bierau, Jörgen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2010
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757267/
https://www.ncbi.nlm.nih.gov/pubmed/20151198
http://dx.doi.org/10.1007/s10545-010-9049-y

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3757267/
https://www.ncbi.nlm.nih.gov/pubmed/20151198
http://dx.doi.org/10.1007/s10545-010-9049-y

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