{"id":64,"date":"2016-03-08T21:00:32","date_gmt":"2016-03-08T20:00:32","guid":{"rendered":"https:\/\/www.cfd-foundation.de\/wordpress\/information-fortbildung\/literatur\/"},"modified":"2016-10-24T20:15:16","modified_gmt":"2016-10-24T18:15:16","slug":"literatur","status":"publish","type":"page","link":"https:\/\/www.cfd-foundation.de\/en\/information-fortbildung\/literatur\/","title":{"rendered":"Link &#038; Literatur"},"content":{"rendered":"<blockquote><p>Wie kann ich mich tiefer in die\u00a0CFTD-Thematik einarbeiten?<\/p><\/blockquote>\n<p>Es gibt \u00fcber die einsch\u00e4gigen Suchmaschinen bereits unz\u00e4hlige Verweise zu den Themen Folate, Folate Deficency, Cerebral Folate Deficiency (CFD) oder Cerebral Folate Transport Deficiency (CFTD).<\/p>\n<p>Wir konzentrieren uns hier bewu\u00dft auf die medizinisch-wissenschaftlichen Links &#038; Publikationen zur\u00a0Cerebrale-Folattransportdefizienz (CFTD) um Wissenschaftlern, behandelnden \u00c4rzten und Betroffenen einen fundierten Einstieg in das Thema zu erm\u00f6glichen.<\/p>\n<p><strong>Link:<\/strong><\/p>\n<ul>\n<li><a href=\"https:\/\/ghr.nlm.nih.gov\/condition\/cerebral-folate-transport-deficiency#\"><u><span style=\"color: #0066cc;\">https:\/\/ghr.nlm.nih.gov\/condition\/cerebral-folate-transport-deficiency#<\/span><\/u><\/a><\/li>\n<\/ul>\n<p><strong>Literatur <\/strong>(nach Ver\u00f6ffentlichungsdatum)<strong>:<\/strong><\/p>\n<p>Molero-Luis M, Serrano M, O&#8217;Callaghan MM, Sierra C, P\u00e9rez-Due\u00f1as B,<br \/>\nGarc\u00eda-Cazorla A, Artuch R. Clinical, etiological and therapeutic aspects of<br \/>\ncerebral folate deficiency. Expert Rev Neurother. 2015;15(7):793-802. doi:10.1586\/14737175.2015.1055322. Epub 2015 Jun 19. Review. PubMed PMID: 26092490.<\/p>\n<p>Torres A, Newton SA, Crompton B, Borzutzky A, Neufeld EJ, Notarangelo L, Berry<br \/>\nGT. CSF 5-Methyltetrahydrofolate Serial Monitoring to Guide Treatment of<br \/>\nCongenital Folate Malabsorption Due to Proton-Coupled Folate Transporter (PCFT)<br \/>\nDeficiency. JIMD Rep. 2015;24:91-6. doi: 10.1007\/8904_2015_445. Epub 2015 May 26.<br \/>\nPubMed PMID: 26006721; PubMed Central PMCID: PMC4582027.<\/p>\n<p>Toelle SP, Wille D, Schmitt B, Scheer I, Th\u00f6ny B, Plecko B. Sensory<br \/>\nstimulus-sensitive drop attacks and basal ganglia calcification: new findings in<br \/>\na patient with FOLR1 deficiency. Epileptic Disord. 2014 Mar;16(1):88-92. doi:<br \/>\n10.1684\/epd.2014.0629. PubMed PMID: 24556562.<\/p>\n<p>Grapp M, Wrede A, Schweizer M, H\u00fcwel S, Galla HJ, Snaidero N, Simons M,<br \/>\nB\u00fcckers J, Low PS, Urlaub H, G\u00e4rtner J, Steinfeld R. Choroid plexus transcytosis<br \/>\nand exosome shuttling deliver folate into brain parenchyma. Nat Commun.<br \/>\n2013;4:2123. doi: 10.1038\/ncomms3123. PubMed PMID: 23828504.<\/p>\n<p>Wang X, Cabrera RM, Li Y, Miller DS, Finnell RH. Functional regulation of<br \/>\nP-glycoprotein at the blood-brain barrier in proton-coupled folate transporter<br \/>\n(PCFT) mutant mice. FASEB J. 2013 Mar;27(3):1167-75. doi: 10.1096\/fj.12-218495.<br \/>\nEpub 2012 Dec 4. PubMed PMID: 23212123; PubMed Central PMCID: PMC3574287.<\/p>\n<p>Serrano M, P\u00e9rez-Due\u00f1as B, Montoya J, Ormazabal A, Artuch R. Genetic causes of<br \/>\ncerebral folate deficiency: clinical, biochemical and therapeutic aspects. Drug<br \/>\nDiscov Today. 2012 Dec;17(23-24):1299-306. doi: 10.1016\/j.drudis.2012.07.008.<br \/>\nEpub 2012 Jul 23. Review. PubMed PMID: 22835503.<\/p>\n<p>Grapp M, Just IA, Linnankivi T, Wolf P, L\u00fccke T, H\u00e4usler M, G\u00e4rtner J,<br \/>\nSteinfeld R. Molecular characterization of folate receptor 1 mutations delineates<br \/>\ncerebral folate transport deficiency. Brain. 2012 Jul;135(Pt 7):2022-31. doi:<br \/>\n10.1093\/brain\/aws122. Epub 2012 May 13. PubMed PMID: 22586289.<\/p>\n<p>Dill P, Schneider J, Weber P, Trachsel D, Tekin M, Jakobs C, Th\u00f6ny B, Blau N.<br \/>\nPyridoxal phosphate-responsive seizures in a patient with cerebral folate<br \/>\ndeficiency (CFD) and congenital deafness with labyrinthine aplasia, microtia and<br \/>\nmicrodontia (LAMM). Mol Genet Metab. 2011 Nov;104(3):362-8. doi:<br \/>\n10.1016\/j.ymgme.2011.05.019. Epub 2011 Jun 2. PubMed PMID: 21752681.<\/p>\n<p>P\u00e9rez-Due\u00f1as B, Ormaz\u00e1bal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra<br \/>\nC, De Grandis E, Marfa MP, Garc\u00eda-Cazorla A, Campistol J, Pascual JM, Artuch R.<br \/>\nCerebral folate deficiency syndromes in childhood: clinical, analytical, and<br \/>\netiologic aspects. Arch Neurol. 2011 May;68(5):615-21. doi:<br \/>\n10.1001\/archneurol.2011.80. PubMed PMID: 21555636.<\/p>\n<p>P\u00e9rez-Due\u00f1as B, Toma C, Ormaz\u00e1bal A, Muchart J, Sanmart\u00ed F, Bombau G, Serrano<br \/>\nM, Garc\u00eda-Cazorla A, Cormand B, Artuch R. Progressive ataxia and myoclonic<br \/>\nepilepsy in a patient with a homozygous mutation in the FOLR1 gene. J Inherit<br \/>\nMetab Dis. 2010 Dec;33(6):795-802. doi: 10.1007\/s10545-010-9196-1. Epub 2010 Sep<br \/>\n21. PubMed PMID: 20857335.<\/p>\n<p>Spector R, Johanson CE. Choroid plexus failure in the Kearns-Sayre syndrome.<br \/>\nCerebrospinal Fluid Res. 2010 Aug 23;7:14. doi: 10.1186\/1743-8454-7-14. PubMed<br \/>\nPMID: 20731822; PubMed Central PMCID: PMC2939631.<\/p>\n<p>Hyland K, Shoffner J, Heales SJ. Cerebral folate deficiency. J Inherit Metab<br \/>\nDis. 2010 Oct;33(5):563-70. doi: 10.1007\/s10545-010-9159-6. Epub 2010 Jul 29.<br \/>\nReview. PubMed PMID: 20668945.<\/p>\n<p>Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P,<br \/>\nWevers R, Grosso S, G\u00e4rtner J. Folate receptor alpha defect causes cerebral<br \/>\nfolate transport deficiency: a treatable neurodegenerative disorder associated<br \/>\nwith disturbed myelin metabolism. Am J Hum Genet. 2009 Sep;85(3):354-63. doi:<br \/>\n10.1016\/j.ajhg.2009.08.005. PubMed PMID: 19732866; PubMed Central PMCID:<br \/>\nPMC2771535.<\/p>\n<p>Pineda M, Ormazabal A, L\u00f3pez-Gallardo E, Nascimento A, Solano A, Herrero MD,<br \/>\nVilaseca MA, Briones P, Ib\u00e1\u00f1ez L, Montoya J, Artuch R. Cerebral folate deficiency<br \/>\nand leukoencephalopathy caused by a mitochondrial DNA deletion. Ann Neurol. 2006<br \/>\nFeb;59(2):394-8. PubMed PMID: 16365882.<\/p>\n<p style=\"text-align: center;\"><a href=\"https:\/\/www.cfd-foundation.de\/information-fortbildung\/therapiezentren\/\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone wp-image-956 size-full\" src=\"https:\/\/www.cfd-foundation.de\/wp-content\/uploads\/2016\/03\/links.png\" alt=\"links\" width=\"30\" height=\"15\" \/><\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Wie kann ich mich tiefer in die\u00a0CFTD-Thematik einarbeiten? Es gibt \u00fcber die einsch\u00e4gigen Suchmaschinen bereits unz\u00e4hlige Verweise zu den Themen Folate, Folate Deficency, Cerebral Folate Deficiency (CFD) oder Cerebral Folate Transport Deficiency (CFTD). Wir konzentrieren uns hier bewu\u00dft auf die medizinisch-wissenschaftlichen Links &#038; Publikationen zur\u00a0Cerebrale-Folattransportdefizienz (CFTD) um Wissenschaftlern, behandelnden \u00c4rzten &#8230;<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":8,"menu_order":20,"comment_status":"closed","ping_status":"closed","template":"","meta":{"footnotes":""},"class_list":["post-64","page","type-page","status-publish","hentry","column","threecol"],"_links":{"self":[{"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/pages\/64","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/comments?post=64"}],"version-history":[{"count":11,"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/pages\/64\/revisions"}],"predecessor-version":[{"id":991,"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/pages\/64\/revisions\/991"}],"up":[{"embeddable":true,"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/pages\/8"}],"wp:attachment":[{"href":"https:\/\/www.cfd-foundation.de\/en\/wp-json\/wp\/v2\/media?parent=64"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}