Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency-Reference-Cited by-同舟云学术

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

Published:2016-11-30 Issue:1 Volume:40 Page:21-48
ISSN:0141-8955
Container-title:Journal of Inherited Metabolic Disease
language:en
Short-container-title:J Inherit Metab Dis

Author:

Huemer Martina^ORCID,Diodato Daria,Schwahn Bernd,Schiff Manuel,Bandeira Anabela,Benoist Jean-Francois,Burlina Alberto,Cerone Roberto,Couce Maria L.,Garcia-Cazorla Angeles,la Marca Giancarlo,Pasquini Elisabetta,Vilarinho Laura,Weisfeld-Adams James D.,Kožich Viktor,Blom Henk,Baumgartner Matthias R.,Dionisi-Vici Carlo

Funder

European Union in the framework of the Health Program.

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s10545-016-9991-4.pdf

Reference235 articles.

1. 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

2. Al Tawari AA, Ramadan DG, Neubauer D, Heberle LC, Al Awadi F (2002) An early onset form methylenetetrahydrofolate reductase deficiency: a report of a family from Kuwait. Brain Dev 24:304–309

3. Alfadhel M, Lillquist YP, Davis C, Junker AK, Stockler-Ipsiroglu S (2011) Eighteen-year follow-up of a patient with cobalamin F disease (cblF): report and review. Am J Med Genet 155A:2571–2577