Literature : Cerebral Folate Deficiency (CFD)
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| Literature 2008 |
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Haavik, J., N. Blau and B. Thony (2008). "Mutations in human monoamine-related neurotransmitter pathway genes." Hum Mutat 29: 891-902.
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| Literature 2007 |
| 2. |
Diaz de la Garza, R. I., J. F. Gregory, 3rd and A. D. Hanson (2007). "From the Cover: Folate biofortification of tomato fruit." Proc Natl Acad Sci U S A 104(10): 4218-22.
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| 3. |
Hyland, K. (2007). "Inherited disorders affecting dopamine and serotonin: critical neurotransmitters derived from aromatic amino acids." J Nutr 137(6): 1568S-72S.
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| 4. |
Ramaekers, V. T., N. Blau, J. M. Sequeira, M. C. Nassogne and E. V. Quadros (2007). "Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits." Neuropediatrics 38(6): 276-81.
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| Literature 2006 |
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Opladen, T., V. T. Ramaekers, G. Heimann and N. Blau (2006). "Analysis of 5-methyltetrahydrofolate in serum of healthy children." Mol Genet Metab. 87:61-65
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| 6. |
Ormazabal, A., A. Garcia-Cazorla, B. Perez-Duenas, V. Gonzalez, E. Fernandez-Alvarez, M. Pineda, J. Campistol and R. Artuch (2006). "Determination of 5-methyltetrahydrofolate in cerebrospinal fluid of paediatric patients: Reference values for a paediatric population." Clin Chim Acta. 371:159-462
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Pineda, M., A. Ormazabal, E. Lopez-Gallardo, A. Nascimento, A. Solano, M. D. Herrero, M. A. Vilaseca, P. Briones, L. Ibanez, J. Montoya and R. Artuch (2006). "Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion." Ann Neurol. 59:394-398
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| 8. |
Steindal, A. E., A. Juzeniene, A. Johnsson and J. Moan (2006). "Photodegradation of 5-methyltetrahydrofolate." Photochem Photobiol. Epub ahead of press
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Tiemeier, H., D. Fekkes, A. Hofman, H. R. van Tuijl, A. J. Kiliaan and M. M. Breteler (2006). "Plasma pterins and folate in late life depression: the Rotterdam Study." Psychiatry Res 145(2-3): 199-206.
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| Literature 2005 |
| 10. |
Hansen, F. J. and N. Blau (2005). "Cerebral folate deficiency: life-changing supplementation with folinic acid." Mol Genet Metab 84: 371-373.
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| 11. |
Neul, J. L., S. M. Maricich, M. Islam, J. Barrish, E. O. Smith, T. Bottiglieri, K. Hyland, P. Humphreys, A. Percy and D. Glaze (2005). "Spinal fluid 5-methyltetrahydrofolate levels are normal in Rett syndrome." Neurology 64(12): 2151-2.
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| 12. |
Ramaekers, V. T., S. P. Rothenberg, J. Sequeira, T. Opladen, N. Blau, E. V. Quadros and J. Selhub (2005). "Autoantibodies against folate receptors of the choroid plexus block folate uptake and cause cerebral folate deficiency in childhood." NEJM 352: 1985-1991.
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| 13. |
Willemsen, M. A., R. A. Wevers and M. M. Vebeek (2005). "Cerebral folate deficiency syndrome." N Engl J Med 353(7): 740;
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| Literature 2004 |
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Moretti, P., T. Sahoo, K. Hyland, T. Bottiglieri, P. Peters, D. del Gaudio, B. Roa, S. Curry, H. Zhu, R. H. Finnell, J. L. Neul, V. T. Ramaekers, N. Blau, C. A. Bacino, G. Miller and F. Scaglia (2004). "Cerebral folate deficiency with autism spectrum manifestations and response to folinic acid." Neurology: 64:1088-1090.
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| 15. |
Ramaekers, V. T. and N. Blau (2004). "Cerebral folate deficiency." Develop Med Child Neurol 46: 843-851.
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| Literature 2003 |
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N. Blau, L. Bonafe, I. Krageloh-Mann, B. Thony, L. Kierat, M. Hausler, and V. Ramaekers (2003) Cerebrospinal fluid pterins and folates in Aicardi-Goutieres syndrome: A new phenotype. Neurology ; 61: 642-648
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| 17. |
V.T. Ramaekers, S.I. Hansen, J. Holm, T. Opladen, J. Senderek, M. Hausler, G. Heimann, B. Fowler, R. Maiwald, and N. Blau (2003) Reduced folate transport to the CNS in female Rett patients Neurology ; 61: 506-514
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| Literature 2002 |
| 18. |
Ramaekers, V. T., M. Hausler, T. Opladen, G. Heimann and N. Blau (2002). "Psychomotor retardation, spastic paraplegia, cerebellar ataxia and dyskinesia associated with low 5-methyltetrahydrofolate in cerebrospinal fluid: a novel neurometabolic condition responding to folinic Acid substitution." Neuropediatrics 33(6): 301-8.
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| Literature 1998 |
| 19. |
de Koning TJ, Duran M, Dorland L, Goosken R, Van Schaftingen E, Jaeken J, Blau N, Berger R, Poll-The BT. Beneficial effect of L-serine and glycine in the management of seizures in 3-phosphoglycerate dehydrogenase deficency. Ann Neurol 1998;44(261-265).
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| Literature 1997 |
| 20. |
Ramaekers, V. T., J. Reul, G. Kusenbach, A. Thron and G. Heimann (1997). "Central pontine myelinolysis associated with acquired folate depletion." Neuropediatrics 28(2): 126-30.
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| Literature 1995 |
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Goldstein, D. S., S. H. Hahn, C. Holmes, C. Tifft, J. Harvey-White, S. Milstien and S. Kaufman (1995). "Monoaminergic effects of folinic acid, L-DOPA, and 5-hydroxytryptophan in dihydropteridine reductase deficiency." J Neurochem 64(6): 2810-3.
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| Literature 1994 |
| 22. |
Surtees, R., S. Heales and A. Bowron (1994). "Association of cerebrospinal fluid deficiency of 5-methyltetrahydrofolate, but not S-adenosylmethionine, with reduced concentrations of the acid metabolites of 5-hydroxytryptamine and dopamine." Clin Sci (Lond) 86(6): 697-702.
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| 23. |
Wevers, R. A., S. I. Hansen, J. L. van Hellenberg Hubar, J. Holm, M. Hoier-Madsen and P. J. Jongen (1994). "Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system." J Neurol Neurosurg Psychiatry 57(2): 223-6.
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| Literature 1992 |
| 24. |
Hyland, K. and R. Surtees (1992). "Measurement of 5-methyltetrahydrofolate in cerebrospinal fluid using HPLC with coulometric electrochemical detection." Pteridines 3: 149-150.
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| Literature 1991 |
| 25. |
Kaufman, S. (1991). "Some metabolic relationships between biopterin and folate: implications for the "methyl trap hypothesis"." Neurochem Res 16(9): 1031-6.
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| Literature 1990 |
| 26. |
Nijst, T. Q., R. A. Wevers, H. C. Schoonderwaldt, O. R. Hommes and A. F. de Haan (1990). "Vitamin B12 and folate concentrations in serum and cerebrospinal fluid of neurological patients with special reference to multiple sclerosis and dementia." J Neurol Neurosurg Psychiatry 53(11): 951-4.
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| Literature 1989 |
| 27. |
Woody, R. C., M. A. Brewster and C. Glasier (1989). "Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy." Neurology 39(5): 673-5.
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| Literature 1987 |
| 28. |
Irons, M., H. L. Levy, M. E. O'Flynn, C. V. Stack, P. J. Langlais, I. J. Butler, S. Milstien and S. Kaufman (1987). "Folinic acid therapy in treatment of dihydropteridine reductase deficiency." J Pediatr 110(1): 61-7.
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| Literature 1983 |
| 29. |
Allen, R. J., S. DiMauro, D. L. Coulter, A. Papadimitriou and S. P. Rothenberg (1983). "Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate." Ann Neurol 13(6): 679-82.
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| 30. |
Dougados, M., J. Zittoun, D. Laplane and P. Castaigne (1983). "Folate metabolism disorder in Kearns-Sayre syndrome." Ann Neurol 13(6): 687.
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| 31. |
Macron, J. M., J. P. Mizon and A. Rosa (1983). "[Disorders of folate metabolism in the Kearns-Sayre syndrome]." Rev Neurol (Paris) 139(11): 673-7.
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