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Items: 1 to 20 of 89

1.

Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome.

Neul JL, Maricich SM, Islam M, Barrish J, Smith EO, Bottiglieri T, Hyland K, Humphreys P, Percy A, Glaze D.

Neurology. 2005 Jun 28;64(12):2151-2. No abstract available.

PMID:
15985595
2.

[Diagnosis and treatment of cerebral folate deficiency].

Wang Q, Yang YL.

Zhonghua Er Ke Za Zhi. 2012 Nov;50(11):874-7. Review. Chinese. No abstract available.

PMID:
23302625
3.

Cerebrospinal fluid concentrations of folate, biogenic amines and pterins in Rett syndrome: treatment with folinic acid.

Ormazabal A, Artuch R, Vilaseca MA, Aracil A, Pineda M.

Neuropediatrics. 2005 Dec;36(6):380-5.

PMID:
16429378
4.

Folinic acid supplementation in Rett syndrome patients does not influence the course of the disease: a randomized study.

Hagebeuk EE, Duran M, Koelman JH, Abeling NG, Vyth A, Poll-The BT.

J Child Neurol. 2012 Mar;27(3):304-9. doi: 10.1177/0883073811417184. Epub 2011 Aug 24.

PMID:
21868372
5.

Reduced folate transport to the CNS in female Rett patients.

Ramaekers VT, Hansen SI, Holm J, Opladen T, Senderek J, Häusler M, Heimann G, Fowler B, Maiwald R, Blau N.

Neurology. 2003 Aug 26;61(4):506-15.

PMID:
12939425
6.

Cerebral folate deficiency syndromes in childhood: clinical, analytical, and etiologic aspects.

Pérez-Dueñas B, Ormazábal A, Toma C, Torrico B, Cormand B, Serrano M, Sierra C, De Grandis E, Marfa MP, García-Cazorla A, Campistol J, Pascual JM, Artuch R.

Arch Neurol. 2011 May;68(5):615-21. doi: 10.1001/archneurol.2011.80.

PMID:
21555636
7.

Autoantibodies to folate receptors in the cerebral folate deficiency syndrome.

Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J.

N Engl J Med. 2005 May 12;352(19):1985-91.

8.

Cerebral folate deficiency.

Gordon N.

Dev Med Child Neurol. 2009 Mar;51(3):180-2. doi: 10.1111/j.1469-8749.2008.03185.x. Review.

9.

Cerebral folate deficiency: life-changing supplementation with folinic acid.

Hansen FJ, Blau N.

Mol Genet Metab. 2005 Apr;84(4):371-3. Epub 2005 Jan 22.

PMID:
15781200
10.

Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome.

Ramaekers VT, Sequeira JM, Artuch R, Blau N, Temudo T, Ormazabal A, Pineda M, Aracil A, Roelens F, Laccone F, Quadros EV.

Neuropediatrics. 2007 Aug;38(4):179-83.

11.

Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: reference values for a paediatric population.

Ormazabal A, García-Cazorla A, Pérez-Dueñas B, Gonzalez V, Fernández-Alvarez E, Pineda M, Campistol J, Artuch R.

Clin Chim Acta. 2006 Sep;371(1-2):159-62. Epub 2006 Apr 19.

PMID:
16624264
12.

Cerebral folate deficiency syndrome.

Willemsen MA, Wevers RA, Verbeek MM.

N Engl J Med. 2005 Aug 18;353(7):740; author reply 740. No abstract available. Erratum in: N Engl J Med. 2006 Jan 12;354(2):215. Vebeek, Marcel M [corrected to Verbeek, Marcel M].

PMID:
16107634
13.

Cerebrospinal fluid beta-endorphin and cortisol study in Rett syndrome.

Echenne B, Bressot N, Bassir M, Daures JP, Rabinowitz A.

J Child Neurol. 1991 Jul;6(3):257-62.

PMID:
1875029
14.

Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome.

Satoi M, Matsuishi T, Yamada S, Yamashita Y, Ohtaki E, Mori K, Riikonen R, Kato H, Percy AK.

Ann Neurol. 2000 Jun;47(6):801-3.

PMID:
10852546
15.

Mitochondrial diseases associated with cerebral folate deficiency.

Garcia-Cazorla A, Quadros EV, Nascimento A, Garcia-Silva MT, Briones P, Montoya J, Ormazábal A, Artuch R, Sequeira JM, Blau N, Arenas J, Pineda M, Ramaekers VT.

Neurology. 2008 Apr 15;70(16):1360-2. doi: 10.1212/01.wnl.0000309223.98616.e4. No abstract available.

PMID:
18413591
16.

Folate transport in the central nervous system.

Spector R, Lorenzo AV.

Am J Physiol. 1975 Sep;229(3):777-82.

PMID:
1239956
17.

Cerebral folate deficiency and folinic acid treatment in hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) syndrome.

Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S.

Tohoku J Exp Med. 2007 Jan;211(1):95-6; author reply 97. No abstract available.

18.

Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits.

Ramaekers VT, Blau N, Sequeira JM, Nassogne MC, Quadros EV.

Neuropediatrics. 2007 Dec;38(6):276-81. doi: 10.1055/s-2008-1065354.

19.

Neurotrophic factors in the pathogenesis of Rett syndrome.

Riikonen R.

J Child Neurol. 2003 Oct;18(10):693-7. Erratum in: J Child Neurol. 2003 Nov;18(11):797.

PMID:
14649551
20.

Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.

Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F.

Neurology. 2005 Mar 22;64(6):1088-90.

PMID:
15781839

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