Literature DB >> 9090418

MR and proton MR spectroscopy of the brain in hyperhomocysteinemia caused by methylenetetrahydrofolate reductase deficiency.

V Engelbrecht1, M Rassek, J Huismann, U Wendel.   

Abstract

MR imaging showed severe atrophy and large areas without myelination in the brain of a girl with methylenetetrahydrofolate reductase deficiency. Proton MR spectroscopy revealed mild signal reduction of N-acetylaspartate. After treatment with betaine, a second MR imaging study revealed a decrease in the size of the hypomyelinated zones that was paralleled by improved clinical status and laboratory findings.

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Year:  1997        PMID： 9090418      PMCID： PMC8338395     

Source DB:  PubMed          Journal:  AJNR Am J Neuroradiol        ISSN： 0195-6108            Impact factor:   3.825


  8 in total

1.  Diagnostic and prognostic value of in vivo proton MR spectroscopy for Zellweger syndrome spectrum patients.

Authors:  H Rosewich; P Dechent; C Krause; A Ohlenbusch; K Brockmann; J Gärtner
Journal:  J Inherit Metab Dis       Date:  2016-08-03       Impact factor: 4.982

2.  Methylenetetrahydrofolate Reductase Deficiency as a Cause of Treatable Adult-onset Leukoencephalopathy and Myelopathy.

Authors:  Santhakumar Senthilvelan; Sathish Kandasamy; Ramshekhar N Menon; Sheela Nampoothiri; Harikrishnan Ramachandran; Bejoy Thomas; Chandrasekharan Kesavadas
Journal:  Clin Neuroradiol       Date:  2020-09-03       Impact factor: 3.649

Review 3.  Diffusion-weighted MR imaging in leukodystrophies.

Authors:  Zoltan Patay
Journal:  Eur Radiol       Date:  2005-07-15       Impact factor: 5.315

Review 4.  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

5.  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 6.  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

7.  Quantification of individual remyelination during short-term disease course by synthetic magnetic resonance imaging.

Authors:  Ruth Schneider; Britta Matusche; Theodoros Ladopoulos; Ilya Ayzenberg; Anne Sophie Biesalski; Ralf Gold; Barbara Bellenberg; Carsten Lukas
Journal:  Brain Commun       Date:  2022-06-28

8.  Methylenetetrahydrofolate reductase deficiency alters levels of glutamate and γ-aminobutyric acid in brain tissue.

Authors:  N M Jadavji; F Wieske; U Dirnagl; C Winter
Journal:  Mol Genet Metab Rep       Date:  2015-02-20
  8 in total

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