Literature DB >> 18559466

Thiamine responsive pyruvate dehydrogenase deficiency in an adult with peripheral neuropathy and optic neuropathy.

F Sedel, G Challe, J-M Mayer, A Boutron, B Fontaine, J M Saudubray, M Brivet.   

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Year:  2008        PMID： 18559466     DOI： 10.1136/jnnp.2007.136630

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  14 in total

Review 1.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2011-10-07       Impact factor: 4.797

2.  The spectrum of pyruvate dehydrogenase complex deficiency: clinical, biochemical and genetic features in 371 patients.

Authors:  Kavi P Patel; Thomas W O'Brien; Sankarasubramon H Subramony; Jonathan Shuster; Peter W Stacpoole
Journal:  Mol Genet Metab       Date:  2012-07       Impact factor: 4.797

Review 3.  Mitochondrial energetics and therapeutics.

Authors:  Douglas C Wallace; Weiwei Fan; Vincent Procaccio
Journal:  Annu Rev Pathol       Date:  2010       Impact factor: 23.472

4.  Long-term treatment with thiamine as possible medical therapy for Friedreich ataxia.

Authors:  Antonio Costantini; Tiziana Laureti; Maria Immacolata Pala; Marco Colangeli; Simona Cavalieri; Elisa Pozzi; Alfredo Brusco; Sandro Salvarani; Carlo Serrati; Roberto Fancellu
Journal:  J Neurol       Date:  2016-08-03       Impact factor: 4.849

Review 5.  An Introduction to Pharmacotherapy for Inborn Errors of Metabolism.

Authors:  Aaron A Harthan
Journal:  J Pediatr Pharmacol Ther       Date:  2018 Nov-Dec

Review 6.  Defects of thiamine transport and metabolism.

Authors:  Garry Brown
Journal:  J Inherit Metab Dis       Date:  2014-05-01       Impact factor: 4.982

7.  The phenotype of adult versus pediatric patients with inborn errors of metabolism.

Authors:  Jean-Marie Saudubray; Fanny Mochel
Journal:  J Inherit Metab Dis       Date:  2018-06-06       Impact factor: 4.982

8.  High-dose thiamine improves the symptoms of Friedreich's ataxia.

Authors:  Antonio Costantini; Rafaela Giorgi; Sonia D'Agostino; Maria Immacolata Pala
Journal:  BMJ Case Rep       Date:  2013-05-22

9.  Hypothesis-independent pathway analysis implicates GABA and acetyl-CoA metabolism in primary open-angle glaucoma and normal-pressure glaucoma.

Authors:  Jessica N Cooke Bailey; Brian L Yaspan; Louis R Pasquale; Michael A Hauser; Jae H Kang; Stephanie J Loomis; Murray Brilliant; Donald L Budenz; William G Christen; John Fingert; Douglas Gaasterland; Terry Gaasterland; Peter Kraft; Richard K Lee; Paul R Lichter; Yutao Liu; Catherine A McCarty; Sayoko E Moroi; Julia E Richards; Tony Realini; Joel S Schuman; William K Scott; Kuldev Singh; Arthur J Sit; Douglas Vollrath; Gadi Wollstein; Donald J Zack; Kang Zhang; Margaret A Pericak-Vance; R Rand Allingham; Robert N Weinreb; Jonathan L Haines; Janey L Wiggs
Journal:  Hum Genet       Date:  2014-07-19       Impact factor: 4.132

10.  Optic neuropathy in a patient with pyruvate dehydrogenase deficiency.

Authors:  Juan E Small; Guido E Gonzalez; Karina E Nagao; David S Walton; Paul A Caruso
Journal:  Pediatr Radiol       Date:  2009-07-09
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