Literature DB >> 10384377

Rapid diagnosis and methionine administration: basis for a favourable outcome in a patient with methylene tetrahydrofolate reductase deficiency.

N G Abeling1, A H van Gennip, H Blom, R A Wevers, P Vreken, H L van Tinteren, H D Bakker.   

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Year:  1999        PMID： 10384377     DOI： 10.1023/a:1005509400481

Source DB:  PubMed          Journal:  J Inherit Metab Dis        ISSN： 0141-8955            Impact factor:   4.982


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  5 in total

1.  Rapid high-performance liquid chromatographic assay for total homocysteine levels in human serum.

Authors:  J B Ubbink; W J Hayward Vermaak; S Bissbort
Journal:  J Chromatogr       Date:  1991-04-19

2.  Betaine dose and treatment intervals in therapy for homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  N Sakura; H Ono; S Nomura; H Ueda; N Fujita
Journal:  J Inherit Metab Dis       Date:  1998-02       Impact factor: 4.982

3.  Betaine in the treatment of homocystinuria due to 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  U Wendel; H J Bremer
Journal:  Eur J Pediatr       Date:  1984-06       Impact factor: 3.183

4.  Standardized method for high-resolution 1H-NMR of cerebrospinal fluid.

Authors:  R A Wevers; U Engelke; U Wendel; J G de Jong; F J Gabreëls; A Heerschap
Journal:  Clin Chem       Date:  1995-05       Impact factor: 8.327

5.  Thermolabile 5,10-methylenetetrahydrofolate reductase as a cause of mild hyperhomocysteinemia.

Authors:  A M Engbersen; D G Franken; G H Boers; E M Stevens; F J Trijbels; H J Blom
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025
  5 in total
  6 in total

1.  Reversal of respiratory failure in both neonatal and late onset isolated remethylation disorders.

Authors:  A Broomfield; L Abulhoul; W Pitt; E Jameson; M Cleary
Journal:  JIMD Rep       Date:  2014-07-06

Review 2.  Isolated remethylation disorders: do our treatments benefit patients?

Authors:  Manuel Schiff; Jean-François Benoist; Bogdana Tilea; Nicolas Royer; Stéphane Giraudier; Hélène Ogier de Baulny
Journal:  J Inherit Metab Dis       Date:  2010-05-21       Impact factor: 4.982

3.  Titration of betaine therapy to optimize therapy in an infant with 5,10-methylenetetrahydrofolate reductase deficiency.

Authors:  Sema Kalkan Ucar; Ozge Altun Koroğlu; Omer Berk; Mehmet Yalaz; Nilgün Kültürsay; Henk J Blom; Mahmut Coker
Journal:  Eur J Pediatr       Date:  2009-05-12       Impact factor: 3.183

4.  Clinical presentation and outcome in a series of 88 patients with the cblC defect.

Authors:  Sabine Fischer; Martina Huemer; Matthias Baumgartner; Federica Deodato; Diana Ballhausen; Avihu Boneh; Alberto B Burlina; Roberto Cerone; Paula Garcia; Gülden Gökçay; Stephanie Grünewald; Johannes Häberle; Jaak Jaeken; David Ketteridge; Martin Lindner; Hanna Mandel; Diego Martinelli; Esmeralda G Martins; Karl O Schwab; Sarah C Gruenert; Bernd C Schwahn; László Sztriha; Maren Tomaske; Friedrich Trefz; Laura Vilarinho; David S Rosenblatt; Brian Fowler; Carlo Dionisi-Vici
Journal:  J Inherit Metab Dis       Date:  2014-03-06       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.  Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines.

Authors:  Martina Huemer; Viktor Kožich; Piero Rinaldo; Matthias R Baumgartner; Begoña Merinero; Elisabetta Pasquini; Antonia Ribes; Henk J Blom
Journal:  J Inherit Metab Dis       Date:  2015-03-12       Impact factor: 4.982
  6 in total

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