Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylen...
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
About this item
Full title
Author / Creator
Huemer, Martina , Mulder-Bleile, Regina , Burda, Patricie , Froese, D. Sean , Suormala, Terttu , Zeev, Bruria Ben , Chinnery, Patrick F. , Dionisi-Vici, Carlo , Dobbelaere, Dries , Gökcay, Gülden , Demirkol, Mübeccel , Häberle, Johannes , Lossos, Alexander , Mengel, Eugen , Morris, Andrew A. , Niezen-Koning, Klary E. , Plecko, Barbara , Parini, Rossella , Rokicki, Dariusz , Schiff, Manuel , Schimmel, Mareike , Sewell, Adrian C. , Sperl, Wolfgang , Spiekerkoetter, Ute , Steinmann, Beat , Taddeucci, Grazia , Trejo-Gabriel-Galán, Jose M. , Trefz, Friedrich , Tsuji, Megumi , Vilaseca, María Antònia , von Kleist-Retzow, Jürgen-Christoph , Walker, Valerie , Zeman, Jiri , Baumgartner, Matthias R. and Fowler, Brian
Publisher
Dordrecht: Springer Netherlands
Journal title
Language
English
Formats
Publication information
Publisher
Dordrecht: Springer Netherlands
Subjects
More information
Scope and Contents
Contents
Background
Severe methylenetetrahydrofolate reductase (MTHFR) deficiency is a rare inborn defect disturbing the remethylation of homocysteine to methionine (<200 reported cases). This retrospective study evaluates clinical, biochemical genetic and in vitro enzymatic data in a cohort of 33 patients.
Methods
Clinical, biochemical and treatme...
Alternative Titles
Full title
Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency
Authors, Artists and Contributors
Author / Creator
Mulder-Bleile, Regina
Burda, Patricie
Froese, D. Sean
Suormala, Terttu
Zeev, Bruria Ben
Chinnery, Patrick F.
Dionisi-Vici, Carlo
Dobbelaere, Dries
Gökcay, Gülden
Demirkol, Mübeccel
Häberle, Johannes
Lossos, Alexander
Mengel, Eugen
Morris, Andrew A.
Niezen-Koning, Klary E.
Plecko, Barbara
Parini, Rossella
Rokicki, Dariusz
Schiff, Manuel
Schimmel, Mareike
Sewell, Adrian C.
Sperl, Wolfgang
Spiekerkoetter, Ute
Steinmann, Beat
Taddeucci, Grazia
Trejo-Gabriel-Galán, Jose M.
Trefz, Friedrich
Tsuji, Megumi
Vilaseca, María Antònia
von Kleist-Retzow, Jürgen-Christoph
Walker, Valerie
Zeman, Jiri
Baumgartner, Matthias R.
Fowler, Brian
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6551224
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_6551224
Other Identifiers
ISSN
0141-8955,1573-2665
E-ISSN
1573-2665
DOI
10.1007/s10545-015-9860-6
