Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency-Reference-Cited by-同舟云学术

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

Published:2015-05-30 Issue:1 Volume:39 Page:115-124
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

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.,Fowler Brian

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-015-9860-6.pdf

Reference43 articles.

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2. Al-Essa MA, Al Amir A, Rashed M et al (1999) Clinical, fluorine-18 labeled 2-fluoro-2-deoxyglucose positron emission tomography of the brain, MR spectroscopy, and therapeutic attempts in methylenetetrahydrofolate reductase deficiency. Brain Dev 21:345–349

3. Bathgate D, Yu-Wai-Man P, Webb B, Taylor RW, Fowler B, Chinnery PF (2012) Recessive spastic paraparesis associated with complex I deficiency due to MTHFR mutations. J Neurol Neurosurg Psychiatry 83:115

4. Birnbaum T, Blom HJ, Prokisch H, Hartig M, Klopstock T (2008) Methylenetetrahydrofolate reductase deficiency (homocystinuria type II) as a rare cause of rapidly progressive tetraspasticity and psychosis in a previously healthy adult. J Neurol 255:1845–1846

5. Burda P, Schäfer A, Suormala T et al (2015) Insights into severe 5,10-methylenetetrahydrofolate reductase deficiency: molecular genetic and enzymatic characterization of 76 patients. Hum Mutat. doi: 10.1002/humu.22779

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