Literature DB >> 23966250

Clinical and biochemical improvements in a patient with MNGIE following enzyme replacement.

Bridget E Bax1, Murray D Bain, Mauro Scarpelli, Massimiliano Filosto, Paola Tonin, Nicholas Moran.   

Abstract

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Year:  2013        PMID： 23966250      PMCID： PMC3795612          DOI： 10.1212/WNL.0b013e3182a6cb4b

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  6 in total

Review 1.  CoQ(10) deficiencies and MNGIE: two treatable mitochondrial disorders.

Authors:  Michio Hirano; Caterina Garone; Catarina M Quinzii
Journal:  Biochim Biophys Acta       Date:  2012-01-18

2.  Carrier erythrocyte entrapped thymidine phosphorylase therapy for MNGIE.

Authors:  N F Moran; M D Bain; M M K Muqit; B E Bax
Journal:  Neurology       Date:  2008-08-26       Impact factor: 9.910

3.  Allogeneic hematopoietic SCT as treatment option for patients with mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): a consensus conference proposal for a standardized approach.

Authors:  J Halter; Wmm Schüpbach; A Gratwohl; M Hirano; C Casali; R Elhasid; K Fay; S Hammans; I Illa; L Kappeler; S Krähenbühl; T Lehmann; H Mandel; R Marti; H Mattle; K Orchard; D Savage; C M Sue; D Valcarcel
Journal:  Bone Marrow Transplant       Date:  2010-05-03       Impact factor: 5.483

4.  Mitochondrial neurogastrointestinal encephalomyopathy: an autosomal recessive disorder due to thymidine phosphorylase mutations.

Authors:  I Nishino; A Spinazzola; A Papadimitriou; S Hammans; I Steiner; C D Hahn; A M Connolly; A Verloes; J Guimarães; I Maillard; H Hamano; M A Donati; C E Semrad; J A Russell; A L Andreu; G M Hadjigeorgiou; T H Vu; S Tadesse; T G Nygaard; I Nonaka; I Hirano; E Bonilla; L P Rowland; S DiMauro; M Hirano
Journal:  Ann Neurol       Date:  2000-06       Impact factor: 10.422

5.  Course and management of allogeneic stem cell transplantation in patients with mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Massimiliano Filosto; Mauro Scarpelli; Paola Tonin; Giovanna Lucchini; Fabio Pavan; Francesca Santus; Rossella Parini; Maria Alice Donati; Maria Sofia Cotelli; Valentina Vielmi; Alice Todeschini; Francesco Canonico; Giuliano Tomelleri; Alessandro Padovani; Attilio Rovelli
Journal:  J Neurol       Date:  2012-06-19       Impact factor: 4.849

6.  Pitfalls in diagnosing mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Massimiliano Filosto; Mauro Scarpelli; Paola Tonin; Silvia Testi; Maria Sofia Cotelli; Mara Rossi; Andrea Salvi; Alberto Grottolo; Valentina Vielmi; Alice Todeschini; Gian Maria Fabrizi; Alessandro Padovani; Giuliano Tomelleri
Journal:  J Inherit Metab Dis       Date:  2011-04-19       Impact factor: 4.982
  6 in total
  30 in total

Review 1.  Erythrocyte-mediated delivery of recombinant enzymes.

Authors:  Vincenzo Leuzzi; Luigia Rossi; Claudia Gabucci; Francesca Nardecchia; Mauro Magnani
Journal:  J Inherit Metab Dis       Date:  2016-03-30       Impact factor: 4.982

Review 2.  Drug delivery by erythrocytes: "Primum non nocere".

Authors:  Carlos H Villa; Jerard Seghatchian; Vladimir Muzykantov
Journal:  Transfus Apher Sci       Date:  2016-10-31       Impact factor: 1.764

Review 3.  Erythrocytes as Carriers for Drug Delivery in Blood Transfusion and Beyond.

Authors:  Carlos H Villa; Douglas B Cines; Don L Siegel; Vladimir Muzykantov
Journal:  Transfus Med Rev       Date:  2016-08-17

Review 4.  Emerging aspects of treatment in mitochondrial disorders.

Authors:  Shamima Rahman
Journal:  J Inherit Metab Dis       Date:  2015-05-12       Impact factor: 4.982

Review 5.  Emerging therapies for mitochondrial diseases.

Authors:  Michio Hirano; Valentina Emmanuele; Catarina M Quinzii
Journal:  Essays Biochem       Date:  2018-07-20       Impact factor: 8.000

Review 6.  Delivery of drugs bound to erythrocytes: new avenues for an old intravascular carrier.

Authors:  Carlos H Villa; Daniel C Pan; Sergei Zaitsev; Douglas B Cines; Donald L Siegel; Vladimir R Muzykantov
Journal:  Ther Deliv       Date:  2015-07

7.  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

8.  Diagnosis of mitochondrial neurogastrointestinal encephalomyopathy: proposal of a clinical algorithm.

Authors:  Vincent Zimmer; Michio Hirano; Anna Zimmer; Frank Lammert
Journal:  Dig Liver Dis       Date:  2014-04-13       Impact factor: 4.088

9.  Long-Term Restoration of Thymidine Phosphorylase Function and Nucleoside Homeostasis Using Hematopoietic Gene Therapy in a Murine Model of Mitochondrial Neurogastrointestinal Encephalomyopathy.

Authors:  Javier Torres-Torronteras; Raquel Cabrera-Pérez; Ignasi Barba; Carme Costa; Noemí de Luna; Antoni L Andreu; Jordi Barquinero; Michio Hirano; Yolanda Cámara; Ramon Martí
Journal:  Hum Gene Ther       Date:  2016-05-04       Impact factor: 5.695

10.  Allogeneic haematopoietic stem cell transplantation for mitochondrial neurogastrointestinal encephalomyopathy.

Authors:  Joerg P Halter; W Michael; M Schüpbach; Hanna Mandel; Carlo Casali; Kim Orchard; Matthew Collin; David Valcarcel; Attilio Rovelli; Massimiliano Filosto; Maria T Dotti; Giuseppe Marotta; Guillem Pintos; Pere Barba; Anna Accarino; Christelle Ferra; Isabel Illa; Yves Beguin; Jaap A Bakker; Jaap J Boelens; Irenaeus F M de Coo; Keith Fay; Carolyn M Sue; David Nachbaur; Heinz Zoller; Claudia Sobreira; Belinda Pinto Simoes; Simon R Hammans; David Savage; Ramon Martí; Patrick F Chinnery; Ronit Elhasid; Alois Gratwohl; Michio Hirano
Journal:  Brain       Date:  2015-08-10       Impact factor: 13.501
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