Qiu, A., Jansen, M., Sakaris, A., Min, S.H., Chattopadhyay, S., Tsai, E., Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption (2006) Cell, 127, pp. 917-928
Reisenauer, A.M., Krumdieck, C.L., Halsted, C.H., Folate conjugase: Two separate activities in human jejunum (1977) Science, 198, pp. 196-197
Sabhranjak, S., Mayor, S., Folate receptor endocytosis and trafficking (2004) Adv Drug Deliv Rev, 56, pp. 1099-1109
Spector, R., Micronutrient homeostasis in mammalian brain and cerebrospinal fluid (1989) J Neurochem, 53, pp. 1667-1674
Antony, A.C., Folate receptors (1996) Ann Rev Nutr, 16, pp. 501-521
Solanky, N., Requena Jimenez, A., D'Souza, S.W., Sibley, C.P., Glazier, J.D., Expression of folate transporters in human placenta and implications for homocysteine metabolism (2010) Placenta, 31, pp. 134-143
Steinfeld, R., Grapp, M., Kraetzner, R., Dreha-Kulaczewski, S., Helms, G., Dechent, P., Folate receptor alpha defect causes cerebral folate transport deficiency: A treatable neurodegenerative disorder associated with disturbed myelin metabolism (2009) Am J Hum Genet, 85, pp. 354-363
Surtees, R., Cobalamin and folate responsive disorders (2001) Vitamin Responsive Conditions in Paediatric Neurology. International Review of Child Neurology Series, pp. 96-108. , Baxter P, editor, London: Mac Keith Press
Holm, J., Hansen, S.I., Hoier-Madsen, M., Bostad, L., High affinity folate binding in human choroid plexus (1991) Biochem J, 280, pp. 267-271
Ramaekers, V.T., Háusler, M., Opladen, T., Heimann, G., Blau, N., 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 (2002) Neuropediatrics, 33, pp. 301-308
Ramaekers, V.T., Blau, N., Cerebral folate deficiency (2004) Dev Med Child Neurol, 46, pp. 843-851
Ramaekers, V.T., Rothenberg, S.P., Sequeira, J.M., Opladen, T., Blau, N., Quadros, E.V., Autoantibodies to folate receptors in the cerebral folate deficiency syndrome (2005) N Engl J Med, 352, pp. 1985-1991
Ramaekers, V.T., Sequeira, J.M., Blau, N., Quadros, E.V., A milk-free diet downregulates folate receptor autoimmunity in cerebral folate deficiency syndrome (2008) Dev Med Child Neurol, 50, pp. 346-352
Garcia-Cazorla, A., Quadros, E.V., Nascimento, A., Garcia-Silva, M.T., Briones, P., Montoya, J., Mitochondrial diseases associated with cerebral folate deficiency (2008) Neurology, 70, pp. 1360-1362
Rothenberg, S.P., Da Costa, M.P., Sequeira, J.M., Cracco, J., Roberts, J.L., Weedon, J., Autoantibodies against folate receptors in women with a pregnancy complicated by a neural-tube defect (2004) N Engl J Med, 350, pp. 134-142
Berrocal-Zaragoza, M.I., Fernandez-Ballart, J.D., Murphy, M.M., Cavallé-Busquets, P., Sequeira, J.M., Quadros, E.V., Association between blocking folate receptor autoantibodies and subfertility (2009) Fertil Steril, 91 (4 SUPPL.), pp. 1518-1521
Molloy, A.M., Quadros, E.V., Sequeira, J.M., Troendle, J.F., Scott, J.M., Kirke, P.N., Lack of association between folate-receptor autoantibodies and neural-tube defects (2009) N Engl J Med, 361, pp. 152-160
Ramaekers, V.T., Quadros, E.V., Sequeira, J.M., Role of folate receptor autoantibodies in infantile autism (2012) Mol Psychiatry, , Apr. 10. DOI:10.1038/mp. 2012.22
Schmidt, R.J., Tancredi, D.J., Ozonoff, S., Hansen, R.L., Hartiala, J., Allayee, H., Maternal periconceptional folic acid intake and risk of autism spectrum disorders and developmental delay in the CHARGE (Childhood Autism Risks from Genetics and Environment) case-control study (2012) Am J Clin Nutr, 96, pp. 80-89
Hansen, F.J., Blau, N., Cerebral folate deficiency: Life-changing supplementation with folinic acid (2005) Mol Genet Metab, 84, pp. 371-373
Ramaekers, V.T., Blau, N., Sequeira, J.M., Nassogne, M.C., Quadros, E.V., Folate receptor autoimmunity and cerebral folate deficiency in low-functioning autism with neurological deficits (2007) Neuropediatrics, 38, pp. 276-281
Ramaekers, V.T., Sequeira, J.M., Artuch, R., Blau, N., Temudo, T., Ormazabal, A., Folate receptor autoantibodies and spinal fluid 5-methyltetrahydrofolate deficiency in Rett syndrome (2007) Neuropediatrics, 38, pp. 179-183
Moretti, P., Sahoo, T., Hyland, K., Bottiglieri, T., Peters, S., Del Gaudio, D., Cerebral folate deficiency with developmental delay, autism, and response to folinic acid (2005) Neurology, 64, pp. 1088-1090
Ho, A., Michelson, D., Aaen, G., Ashwal, S., Cerebral folate deficiency presenting as adolescent catatonic schizophrenia: A case report (2010) J Child Neurol, 25, pp. 898-900
Ramaekers, V.T., Hansen, S.I., Holm, J., Opladen, T., Senderek, J., Häusler, M., Reduced folate transport to the CNS in female Rett patients (2003) Neurology, 61, pp. 506-515
Blau, N., Bonafé, L., Krägeloh-Mann, I., Thöny, B., Kierat, L., Häusler, M., Cerebrospinal fluid pterins and folates in Aicardi-Goutières syndrome: A new phenotype (2003) Neurology, 61, pp. 642-647
Ramaekers, V.T., Weis, J., Sequeira, J.M., Quadros, E.V., Blau, N., Mitochondrial complex I encephalomyopathy and cerebral 5-methyltetrahydrofolate deficiency (2007) Neuropediatrics, 38, pp. 184-187
Tanji, K., Schon, E.A., Di Mauro, S., Bonilla, E., Kearns-Sayre syndrome: Oncocytic transformation of choroid plexus epithelium (2000) J Neurol Sci, 178, pp. 29-36
Hasselmann, O., Blau, N., Ramaekers, V.T., Quadros, E.V., Sequeira, J.M., Weissert, M., Cerebral folate deficiency and CNS inflammatory markers in Alpers disease (2010) Mol Genet Metab, 99, pp. 58-61
Pineda, M., Ormazabal, A., Löpez-Gallardo, E., Nascimento, A., Solano, A., Herrero, M.D., Cerebral folate deficiency and leukoencephalopathy caused by a mitochondrial DNA deletion (2006) Ann Neurol, 59, pp. 394-398
Grapp, M., Just, I.A., Linnankivi, T., Wolf, P., Lücke, T., Häusler, M., Molecular characterization of folate receptor 1 mutations delineates cerebral folate transport deficiency (2012) Brain, 135, pp. 2022-2031
Cario, H., Bode, H., Debatin, K.M., Opladen, T., Schwarz, K., Congenital null mutations of the FOLR1 gene: A progressive neurologic disease and its treatment (2009) Neurology, 73, pp. 2127-2129
Piedrahita, J.A., Oetama, B., Bennett, G., Van Waes, J., Kamen, B.A., Richardson, J., Mice lacking the folic acid-binding protein Folbp1 are defective in early embryonic development (1999) Nat Genet, 23, pp. 228-232
De Marco, P., Moroni, A., Merello, E., De Franchis, R., Andreussi, L., Finnell, R.H., Folate pathway gene alterations in patients with neural tube defects (2000) Am J Med Genet, 95, pp. 216-223
Mercimek-Mahmutoglu, S., Stockler-Ipsiroglu, S., Cerebral folate deficiency and folinic acid treatment in Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC) Syndrome (2007) Tohoku J Exp Med, 211, pp. 95-96
Ramaekers, V., Quadros, E.V., Folate receptor autoimmunity in cerebral folate deficiency (2010) Inflammatory and Autoimmune Disorders of the Nervous System in Children, pp. 302-315. , Dale RC, Vincent A, editors, London: Mac Keith Press
Bráutigam, C., Wevers, R.A., Hyland, K., Sharma, R.K., Knust, A., Hoffman, G.F., The influence of L-dopa on methylation capacity in aromatic L-amino acid decarboxylase deficiency: Biochemical findings in two patients (2000) J Inherit Metab Dis, 23, pp. 321-324
Irons, M., Levy, H.L., O'Flynn, M.E., Stack, C.V., Langlais, P.J., Butler, I.J., Folinic acid therapy in treatment of dihydropteridine reductase deficiency (1987) J Pediatr, 110, pp. 61-67
Woody, R.C., Brewster, M.A., Glasier, C., Progressive intracranial calcification in dihydropteridine reductase deficiency prior to folinic acid therapy (1989) Neurology, 39, pp. 673-675
De Koning, T.J., Duran, M., Dorland, L., Neurotransmitters in 3-phosphoglycerate dehydrogenase deficiency (2000) Eur J Pediatr, 159, pp. 939-940
Corbeel, L., Van Den Berghe, G., Jaeken, J., Van Tornout, J., Eeckels, R., Congenital folate malabsorption (1985) Eur J Pediatr, 143, pp. 284-290
Cario, H., Smith, D., Blom, H., Blau, N., Bode, H., Holzmann, K., Dihydrofolate reductase deficiency due to a homozygous DHFR mutation causes megaloblastic anemia and cerebral folate deficiency leading to severe neurologic disease (2011) Am J Hum Genet, 88, pp. 226-231
Opladen, T., Ramaekers, V.T., Heimann, G., Blau, N., Analysis of 5-methyltetrahydrofolate in serum of healthy children (2006) Mol Genet Metab, 87, pp. 61-65
Ghosh, S.K., Rawal, N., Syed, S.K., Paik, W.K., Kim, S., Enzymic methylation of myelin basic protein in myelin (1991) Biochem J, 275, pp. 381-387
Surtees, R., Biochemical pathogenesis of subacute combined degeneration of the spinal cord and brain (1993) J Inherit Metab Dis, 16, pp. 762-770
