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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

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