Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function-Reference-Cited by-同舟云学术

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Hemodialysis in MNGIE transiently reduces serum and urine levels of thymidine and deoxyuridine, but not CSF levels and neurological function

Published:2017-08-01 Issue:1 Volume:12 Page:
ISSN:1750-1172
Container-title:Orphanet Journal of Rare Diseases
language:en
Short-container-title:Orphanet J Rare Dis

Author:

Röeben Benjamin,Marquetand Justus,Bender Benjamin,Billing Heiko,Haack Tobias B.,Sanchez-Albisua Iciar,Schöls Ludger,Blom Henk J.,Synofzik Matthis

Funder

Else Kröner-Fresenius-Stiftung (DE)

Bundesministerium für Bildung und Forschung

Publisher

Springer Science and Business Media LLC

Subject

Pharmacology (medical),Genetics(clinical),General Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13023-017-0687-0.pdf

Reference7 articles.

1. Hirano M, Silvestri G, Blake DM, Lombes A, Minetti C, Bonilla E, Hays AP, Lovelace RE, Butler I, Bertorini TE, et al. Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): clinical, biochemical, and genetic features of an autosomal recessive mitochondrial disorder. Neurology. 1994;44(4):721–7.

2. Nishino I, Spinazzola A, Hirano M. Thymidine phosphorylase gene mutations in MNGIE, a human mitochondrial disorder. Science. 1999;283(5402):689–92.

3. Halter JP, Michael W, Schupbach M, Mandel H, Casali C, Orchard K, Collin M, Valcarcel D, Rovelli A, Filosto M, et al. Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy. Brain. 2015;138(Pt 10):2847–58.

4. Yadak R, Sillevis Smitt P, van Gisbergen MW, van Til NP and de Coo IFM. Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options. Front. Cell. Neurosci. 2017;11:31. doi: 10.3389/fncel.2017.00031 .

5. Yavuz H, Ozel A, Christensen M, Christensen E, Schwartz M, Elmaci M, Vissing J. Treatment of mitochondrial neurogastrointestinal encephalomyopathy with dialysis. Arch Neurol. 2007;64(3):435–8.

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2. Hematopoietic stem cell transplantation with reduced toxicity conditioning regimen in mitochondrial neurogastrointestinal encephalopathy syndrome;Pediatric Blood & Cancer;2023-04-12

3. A new mutation in the TYMP-gene: clinical and morphological characteristics of a patient with MNGIE syndrome;Neuromuscular Diseases;2022-12-13

4. Mitochondrial DNA maintenance defects: potential therapeutic strategies;Molecular Genetics and Metabolism;2022-09

5. Rare pathogenic mutation in the thymidine phosphorylase gene (TYMP) causing mitochondrial neurogastrointestinal encephalomyelopathy;BMJ Neurology Open;2022-08

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