Literature DB >> 18854913

Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult.

T Birnbaum, H J Blom, H Prokisch, M Hartig, T Klopstock.   

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Year:  2008        PMID： 18854913     DOI： 10.1007/s00415-008-0043-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   4.849


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  11 in total

Review 1.  Remethylation defects: guidelines for clinical diagnosis and treatment.

Authors:  H Ogier de Baulny; M Gérard; J M Saudubray; J Zittoun
Journal:  Eur J Pediatr       Date:  1998-04       Impact factor: 3.183

2.  Severe methylenetetrahydrofolate reductase deficiency revealed by a pulmonary embolism in a young adult.

Authors:  Carole Tonetti; Marc Ruivard; Virginie Rieu; Jacqueline Zittoun; Stephane Giraudier
Journal:  Br J Haematol       Date:  2002-11       Impact factor: 6.998

3.  Impact of new mutations in the methylenetetrahydrofolate reductase gene assessed on biochemical phenotypes: a familial study.

Authors:  C Tonetti; J Amiel; A Munnich; J Zittoun
Journal:  J Inherit Metab Dis       Date:  2001-12       Impact factor: 4.982

4.  Methylenetetrahydrofolate reductase deficiency revealed by a neuropathy in a psychotic adult.

Authors:  F Pasquier; F Lebert; H Petit; J Zittoun; J Marquet
Journal:  J Neurol Neurosurg Psychiatry       Date:  1994-06       Impact factor: 10.154

5.  Prenatal diagnosis for severe methylenetetrahydrofolate reductase deficiency by linkage analysis and enzymatic assay.

Authors:  Chantal F Morel; Patrick Scott; Ernst Christensen; David S Rosenblatt; Rima Rozen
Journal:  Mol Genet Metab       Date:  2005-04-01       Impact factor: 4.797

6.  Methylenetetrahydrofolate reductase (MTHFR) genetic polymorphisms and psychiatric disorders: a HuGE review.

Authors:  Simon Gilbody; Sarah Lewis; Tracy Lightfoot
Journal:  Am J Epidemiol       Date:  2006-10-30       Impact factor: 4.897

7.  Relations between molecular and biological abnormalities in 11 families from siblings affected with methylenetetrahydrofolate reductase deficiency.

Authors:  Carole Tonetti; Jean-Marie Saudubray; Bernard Echenne; Pierre Landrieu; Stéphane Giraudier; Jacqueline Zittoun
Journal:  Eur J Pediatr       Date:  2003-05-06       Impact factor: 3.183

8.  Intermittent encephalopathy, reversible nerve conduction slowing, and MRI evidence of cerebral white matter disease in methylenetetrahydrofolate reductase deficiency.

Authors:  D Walk; S S Kang; A Horwitz
Journal:  Neurology       Date:  1994-02       Impact factor: 9.910

9.  Seven novel mutations in the methylenetetrahydrofolate reductase gene and genotype/phenotype correlations in severe methylenetetrahydrofolate reductase deficiency.

Authors:  P Goyette; P Frosst; D S Rosenblatt; R Rozen
Journal:  Am J Hum Genet       Date:  1995-05       Impact factor: 11.025

10.  Homocysteinemia and schizophrenia as a case of methylation deficiency.

Authors:  B Regland; B V Johansson; C G Gottfries
Journal:  J Neural Transm Gen Sect       Date:  1994
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  6 in total

1.  Functional characterization of missense mutations in severe methylenetetrahydrofolate reductase deficiency using a human expression system.

Authors:  Patricie Burda; Terttu Suormala; Dorothea Heuberger; Alexandra Schäfer; Brian Fowler; D Sean Froese; Matthias R Baumgartner
Journal:  J Inherit Metab Dis       Date:  2016-10-14       Impact factor: 4.982

Review 2.  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

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

6.  Rapidly Progressive Spastic Paraplegia Due to Hyperhomocysteinemia in Child with MTHFR Gene Mutation and Mitochondrial Complex I Deficiency: A Rare Association.

Authors:  Rohan R Mahale; Jyothi Gautam; Gautam Arunachal; Sandhya Alappati; Nibu Varghese; Jennifer Kovoor; Pooja Mailankody; Hansashree Padmanabha; Mathuranath Pavagada
Journal:  J Pediatr Neurosci       Date:  2021-07-12
  6 in total

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