Literature DB >> 12638947

Deoxyuridine accumulation in urine in thymidine phosphorylase deficiency (MNGIE).

L D Fairbanks1, A M Marinaki, E A Carrey, S R Hammans, J A Duley.   

Abstract

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Year:  2002        PMID： 12638947     DOI： 10.1023/a:1022007827133

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  7 in total

1.  Mitochondrial neurogastrointestinal encephalomyopathy in three siblings: clinical, genetic and neuroradiological features.

Authors:  W M M Schüpbach; K Madhavi Vadday; A Schaller; C Brekenfeld; L Kappeler; J F Benoist; C Nguyen-Thi Xuan-Huong; J M Burgunder; F Seibold; S Gallati; H P Mattle
Journal:  J Neurol       Date:  2007-02-09       Impact factor: 4.849

2.  Inborn errors of pyrimidine metabolism: clinical update and therapy.

Authors:  Shanti Balasubramaniam; John A Duley; John Christodoulou
Journal:  J Inherit Metab Dis       Date:  2014-07-17       Impact factor: 4.982

3.  Inosine triphosphate pyrophosphohydrolase (ITPA) polymorphic sequence variants in adult hematological malignancy patients and possible association with mitochondrial DNA defects.

Authors:  Mazin A Zamzami; John A Duley; Gareth R Price; Deon J Venter; John W Yarham; Robert W Taylor; Laurence P Catley; Timothy H J Florin; Anthony M Marinaki; Francis Bowling
Journal:  J Hematol Oncol       Date:  2013-03-29       Impact factor: 17.388

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

Authors:  Jaap A Bakker; Patrick Schlesser; Hubert J M Smeets; Baudouin Francois; Jörgen Bierau
Journal:  J Inherit Metab Dis       Date:  2010-02-12       Impact factor: 4.982

Review 5.  Mitochondrial Neurogastrointestinal Encephalomyopathy Caused by Thymidine Phosphorylase Enzyme Deficiency: From Pathogenesis to Emerging Therapeutic Options.

Authors:  Rana Yadak; Peter Sillevis Smitt; Marike W van Gisbergen; Niek P van Til; Irenaeus F M de Coo
Journal:  Front Cell Neurosci       Date:  2017-02-15       Impact factor: 5.505

6.  Thymidine and deoxyuridine accumulate in tissues of patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE).

Authors:  Maria Lucia Valentino; Ramon Martí; Saba Tadesse; Luis Carlos López; Jose L Manes; Judy Lyzak; Angelika Hahn; Valerio Carelli; Michio Hirano
Journal:  FEBS Lett       Date:  2007-06-27       Impact factor: 4.124

Review 7.  Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE-MTDPS1).

Authors:  Massimiliano Filosto; Stefano Cotti Piccinelli; Filomena Caria; Serena Gallo Cassarino; Enrico Baldelli; Anna Galvagni; Irene Volonghi; Mauro Scarpelli; Alessandro Padovani
Journal:  J Clin Med       Date:  2018-10-26       Impact factor: 4.241
  7 in total

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