Literature DB >> 18356252

Psychosis, paraplegia and coma revealing methylenetetrahydrofolate reductase deficiency in a 56-year-old woman.

J M Michot, F Sedel, S Giraudier, J M Smiejan, T Papo.   

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Year:  2008        PMID： 18356252     DOI： 10.1136/jnnp.2008.143677

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


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  6 in total

Review 1.  The neuropsychiatry of inborn errors of metabolism.

Authors:  Mark Walterfang; Olivier Bonnot; Ramon Mocellin; Dennis Velakoulis
Journal:  J Inherit Metab Dis       Date:  2013-05-23       Impact factor: 4.982

2.  Outcomes of four patients with homocysteine remethylation disorders detected by newborn screening.

Authors:  Derek Wong; Silvia Tortorelli; Lisa Bishop; Elizabeth A Sellars; Lisa A Schimmenti; Natalie Gallant; Carlos E Prada; Robert J Hopkin; Nancy D Leslie; Susan A Berry; David S Rosenblatt; Amy L Fair; Dietrich Matern; Kimiyo Raymond; Devin Oglesbee; Piero Rinaldo; Dimitar Gavrilov
Journal:  Genet Med       Date:  2015-04-09       Impact factor: 8.822

3.  Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Authors:  Martina Huemer; Regina Mulder-Bleile; Patricie Burda; D Sean Froese; Terttu Suormala; Bruria Ben Zeev; Patrick F Chinnery; Carlo Dionisi-Vici; Dries Dobbelaere; Gülden Gökcay; Mübeccel Demirkol; Johannes Häberle; Alexander Lossos; Eugen Mengel; Andrew A Morris; Klary E Niezen-Koning; Barbara Plecko; Rossella Parini; Dariusz Rokicki; Manuel Schiff; Mareike Schimmel; Adrian C Sewell; Wolfgang Sperl; Ute Spiekerkoetter; Beat Steinmann; Grazia Taddeucci; Jose M Trejo-Gabriel-Galán; Friedrich Trefz; Megumi Tsuji; María Antònia Vilaseca; Jürgen-Christoph von Kleist-Retzow; Valerie Walker; Jiri Zeman; Matthias R Baumgartner; Brian Fowler
Journal:  J Inherit Metab Dis       Date:  2015-05-30       Impact factor: 4.982

Review 4.  Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Authors:  Martina Huemer; Daria Diodato; Bernd Schwahn; Manuel Schiff; Anabela Bandeira; Jean-Francois Benoist; Alberto Burlina; Roberto Cerone; Maria L Couce; Angeles Garcia-Cazorla; Giancarlo la Marca; Elisabetta Pasquini; Laura Vilarinho; James D Weisfeld-Adams; Viktor Kožich; Henk Blom; Matthias R Baumgartner; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2016-11-30       Impact factor: 4.982

5.  Rapidly progressive psychotic symptoms triggered by infection in a patient with methylenetetrahydrofolate reductase deficiency: a case report.

Authors:  Shin Iida; Masataka Nakamura; Shinya Asayama; Takenobu Kunieda; Satoshi Kaneko; Hitoshi Osaka; Hirofumi Kusaka
Journal:  BMC Neurol       Date:  2017-02-28       Impact factor: 2.474

Review 6.  Can psychiatric childhood disorders be due to inborn errors of metabolism?

Authors:  A Simons; F Eyskens; I Glazemakers; D van West
Journal:  Eur Child Adolesc Psychiatry       Date:  2016-09-30       Impact factor: 4.785
  6 in total

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