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Quoted phrase not found in phrase index: "Visceral neuropathy, familial, 1, autosomal recessive"
Page 1
Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.
Brain. 2015 Oct;138(Pt 10):2847-58. doi: 10.1093/brain/awv226. Epub 2015 Aug 10.
Brain. 2015.
PMID: 26264513
Free PMC article.
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fatal autosomal recessive disease due to TYMP mutations that result in thymidine phosphorylase deficiency. ...Seven patients (29 …
Haematopoietic stem cell transplantation has been proposed as treatment for mitochondrial neurogastrointestinal encephalomyopathy, a rare fa …
Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.
Filosto M, Scarpelli M, Tonin P, Lucchini G, Pavan F, Santus F, Parini R, Donati MA, Cotelli MS, Vielmi V, Todeschini A, Canonico F, Tomelleri G, Padovani A, Rovelli A.
Filosto M, et al.
J Neurol. 2012 Dec;259(12):2699-706. doi: 10.1007/s00415-012-6572-9. Epub 2012 Jun 19.
J Neurol. 2012.
PMID: 22711161
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). ...
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the ge …
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Mitochondrial Neurogastrointestinal Encephalopathy: Clinical, Biochemical and Molecular Study in Three Egyptian Patients.
Selim L, Van Coster R, Mehaney D, Hassan F, Vanlander A, Smet J, De Latter E, Vandemeulebroecke K, Mohamed Abdou D, Nakhla G, Mostafa M, Habets D, Bakker J, Abdel Bary A.
Selim L, et al.
Genet Couns. 2016;27(2):193-205.
Genet Couns. 2016.
PMID: 29485812
BACKGROUND: Mitochondrial Neurogastrointestinal Encephalopathy syndrome is a rare autosomal recessive disorder. The disease is caused by mutations in the thymidine phosphorylase gene. ...Histochemical analysis of themuscle biopsy revealed deficient cytochrome C oxid …
BACKGROUND: Mitochondrial Neurogastrointestinal Encephalopathy syndrome is a rare autosomal recessive disorder. The disease is …
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