Церебральная фолатная недостаточность (Russian Wikipedia)

Analysis of information sources in references of the Wikipedia article "Церебральная фолатная недостаточность" in Russian language version.

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43nih.gov

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34doi.org

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7wikipedia.org

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5archive.org

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1web.archive.org

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1books.google.com

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archive.org

Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg SP (June 1983). "Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate". Annals of Neurology. 13 (6): 679—82. doi:10.1002/ana.410130620. PMID 6881930.
Dougados M, Zittoun J, Laplane D, Castaigne P (June 1983). "Folate metabolism disorder in Kearns-Sayre syndrome". Annals of Neurology. 13 (6): 687. doi:10.1002/ana.410130624. PMID 6881934.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550—6. doi:10.1002/ana.21568. PMID 19142996.
Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ (February 1994). "Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system". Journal of Neurology, Neurosurgery, and Psychiatry. 57 (2): 223—6. doi:10.1136/jnnp.57.2.223. PMC 1072457. PMID 8126512.
Ramaekers VT, Blau N (December 2004). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 46 (12): 843—51. doi:10.1017/s0012162204001471. PMID 15581159.

books.google.com

Phillip L. Pearl, M. D. Inherited Metabolic Epilepsies. — Demos Medical Publishing^[англ.], 2012. — С. 3—. — ISBN 978-1-61705-056-5.

doi.org

Mafi S, Laroche-Raynaud C, Chazelas P, Lia AS, Derouault P, Sturtz F, Baaj Y, Froget R, Rio M, Benoist JF, Poumeaud F, Favreau F, Faye PA (October 2020). "Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease". Brain Sciences. 10 (11). doi:10.3390/brainsci10110762. PMID 33105619.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Papadopoulou MT, Dalpa E, Portokalas M, Katsanika I, Tirothoulaki K, Spilioti M, Gerou S, Plecko B, Evangeliou AE (July 2021). "Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet". JIMD Reports. 60 (1): 3—9. doi:10.1002/jmd2.12206. PMID 34258135.
Stover PJ, Durga J, Field MS (April 2017). "Folate nutrition and blood-brain barrier dysfunction". Current Opinion in Biotechnology. 44: 146—152. doi:10.1016/j.copbio.2017.01.006. PMC 5385290. PMID 28189938.
Tiani KA, Stover PJ, Field MS (August 2019). "The Role of Brain Barriers in Maintaining Brain Vitamin Levels". Annual Review of Nutrition. 39: 147—173. doi:10.1146/annurev-nutr-082018-124235. PMID 31150592.
Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg SP (June 1983). "Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate". Annals of Neurology. 13 (6): 679—82. doi:10.1002/ana.410130620. PMID 6881930.
Dougados M, Zittoun J, Laplane D, Castaigne P (June 1983). "Folate metabolism disorder in Kearns-Sayre syndrome". Annals of Neurology. 13 (6): 687. doi:10.1002/ana.410130624. PMID 6881934.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550—6. doi:10.1002/ana.21568. PMID 19142996.
Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ (February 1994). "Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system". Journal of Neurology, Neurosurgery, and Psychiatry. 57 (2): 223—6. doi:10.1136/jnnp.57.2.223. PMC 1072457. PMID 8126512.
Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N (December 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. doi:10.1055/s-2002-37082. PMID 12571785.
Ramaekers VT, Blau N (December 2004). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 46 (12): 843—51. doi:10.1017/s0012162204001471. PMID 15581159.
Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J (May 2005). "Autoantibodies to folate receptors in the cerebral folate deficiency syndrome". The New England Journal of Medicine. 352 (19): 1985—91. doi:10.1056/NEJMoa043160. PMID 15888699.
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J (September 2009). "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism". American Journal of Human Genetics. 85 (3): 354—63. doi:10.1016/j.ajhg.2009.08.005. PMC 2771535. PMID 19732866.
Pappalardo MG, Di Nora A, Giugno A, Meli C, Sapuppo A, Pavone P, Fiumara A (September 2022). "Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl". Global Medical Genetics. 9 (3): 247—251. doi:10.1055/s-0042-1756661. PMC 9484871. PMID 36132999.
Ramaekers VT, Quadros EV (July 2022). "Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies". Nutrients. 14 (15). doi:10.3390/nu14153096. PMC 9370123. PMID 35956272.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H; et al. (2020). "CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression". J Med Genet. doi:10.1136/jmedgenet-2020-106987. PMC 7895856. PMID 32820034.{{cite journal}}: Википедия:Обслуживание CS1 (множественные имена: authors list) (ссылка)
Akiyama T, Kuki I, Kim K, Yamamoto N, Yamada Y, Igarashi K, Ishihara T, Hatano Y, Kobayashi K (November 2022). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6): 529—535. doi:10.1002/jmd2.12321. PMID 36341171.
Han X, Cao X, Cabrera RM, Pimienta Ramirez PA, Zhang C, Ramaekers VT, Finnell RH, Lei Y (December 2022). "KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency". Biology. 12 (1). doi:10.3390/biology12010074. PMC 9855468. PMID 36671766.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Messina M, Manea E, Cullup T, Tuschl K, Batzios S (January 2023). "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid". JIMD Reports. 64 (1): 42—52. doi:10.1002/jmd2.12347. PMC 9830023. PMID 36636587.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G (July 2023). "Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature". Orphanet Journal of Rare Diseases. 18 (1): 187. doi:10.1186/s13023-023-02802-6. PMID 37443037.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Bobrowski-Khoury N, Ramaekers VT, Sequeira JM, Quadros EV (July 2021). "Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention". Journal of Personalized Medicine. 11 (8). doi:10.3390/jpm11080710. PMID 34442354.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Rossignol DA, Frye RE (November 2021). "Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis". Journal of Personalized Medicine. 11 (11). doi:10.3390/jpm11111141. PMID 34834493.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Pan LA, Segreti AM, Wrobleski J, Shaw A, Hyland K, Hughes M, Finegold DN, Naviaux RK, Brent DA, Vockley J, Peters DG (November 2022). "Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior". Psychological Medicine: 1—9. doi:10.1017/S0033291722003233. PMID 36330595.
Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J (January 2017). "Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior". The American Journal of Psychiatry. 174 (1): 42—50. doi:10.1176/appi.ajp.2016.15111500. PMID 27523499.
Ramaekers VT, Sequeira JM, Quadros EV (July 2016). "The basis for folinic acid treatment in neuro-psychiatric disorders". Biochimie. 126: 79—90. doi:10.1016/j.biochi.2016.04.005. PMID 27068282.
Spector R, Johanson CE (August 2010). "Choroid plexus failure in the Kearns-Sayre syndrome". Cerebrospinal Fluid Research. 7: 14. doi:10.1186/1743-8454-7-14. PMC 2939631. PMID 20731822.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)

dx.doi.org

Hyland K., Shoffner J., Heales S. J. Cerebral folate deficiency (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2010. — October (vol. 33, no. 5). — P. 563—570. — doi:10.1007/s10545-010-9159-6. — PMID 20668945.
Serrano M., Pérez-Dueñas B., Montoya J., Ormazabal A., Artuch R. Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects (англ.) // Drug Discovery Today^[англ.] : journal. — 2012. — Vol. 17, no. 23—24. — P. 1299—1306. — doi:10.1016/j.drudis.2012.07.008. — PMID 22835503.
Baumgartner, M. R. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E (англ.) // Handbook of clinical neurology : journal. — 2013. — Vol. 113. — P. 1799—1810. — doi:10.1016/B978-0-444-59565-2.00049-6. — PMID 23622402.
Agadi S., Quach M. M., Haneef Z. Vitamin-responsive epileptic encephalopathies in children (англ.) // Epilepsy Research and Treatment : journal. — 2013. — Vol. 2013. — P. 510529. — doi:10.1155/2013/510529. — PMID 23984056. — PMC 3745849.
Cosnahan A. S., Campbell C. T. Inborn Errors of Metabolism in Pediatric Epilepsy // The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG. — 2019. — Т. 24, № 5. — С. 398—405. — doi:10.5863/1551-6776-24.5.398. — PMID 31598103. — PMC 6782122.
Pope S., Artuch R., Heales S., Rahman S. Cerebral folate deficiency: Analytical tests and differential diagnosis (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2019. — March. — doi:10.1002/jimd.12092. — PMID 30916789.
Masingue M., Benoist J. F., Roze E., Moussa F., Sedel F., Lubetzki C., Nadjar Y. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. (англ.) // Journal Of The Neurological Sciences. — 2019. — 15 January (vol. 396). — P. 112—118. — doi:10.1016/j.jns.2018.11.014. — PMID 30448717. [исправить]
Quijada-Fraile P., O'Callaghan M., Martín-Hernández E., Montero R., Garcia-Cazorla À, de Aragón AM et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome (англ.) // Orphanet Journal of Rare Diseases^[англ.] : journal. — 2014. — Vol. 9. — P. 217. — doi:10.1186/s13023-014-0217-2. — PMID 25539952. — PMC 4302586.
Korinthenberg Rudolf, Kirschner Janbernd, Eckenweiler Matthias, Steinfeld Robert, Tatishvili Nana Nino, Horvath Rita, Kleinle Stephanie, Abicht Angela. Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report (англ.) // Journal of the International Child Neurology Association. — 2021. — 9 October (vol. 1, no. 1). — ISSN 2410-6410. — doi:10.17724/jicna.2020.216. [исправить]

nih.gov

pubmed.ncbi.nlm.nih.gov

Mafi S, Laroche-Raynaud C, Chazelas P, Lia AS, Derouault P, Sturtz F, Baaj Y, Froget R, Rio M, Benoist JF, Poumeaud F, Favreau F, Faye PA (October 2020). "Pharmacoresistant Epilepsy in Childhood: Think of the Cerebral Folate Deficiency, a Treatable Disease". Brain Sciences. 10 (11). doi:10.3390/brainsci10110762. PMID 33105619.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Papadopoulou MT, Dalpa E, Portokalas M, Katsanika I, Tirothoulaki K, Spilioti M, Gerou S, Plecko B, Evangeliou AE (July 2021). "Cerebral folate deficiency in two siblings caused by biallelic variants including a novel mutation of FOLR1 gene: Intrafamilial heterogeneity following early treatment and the role of ketogenic diet". JIMD Reports. 60 (1): 3—9. doi:10.1002/jmd2.12206. PMID 34258135.
Stover PJ, Durga J, Field MS (April 2017). "Folate nutrition and blood-brain barrier dysfunction". Current Opinion in Biotechnology. 44: 146—152. doi:10.1016/j.copbio.2017.01.006. PMC 5385290. PMID 28189938.
Tiani KA, Stover PJ, Field MS (August 2019). "The Role of Brain Barriers in Maintaining Brain Vitamin Levels". Annual Review of Nutrition. 39: 147—173. doi:10.1146/annurev-nutr-082018-124235. PMID 31150592.
Allen RJ, DiMauro S, Coulter DL, Papadimitriou A, Rothenberg SP (June 1983). "Kearns-Sayre syndrome with reduced plasma and cerebrospinal fluid folate". Annals of Neurology. 13 (6): 679—82. doi:10.1002/ana.410130620. PMID 6881930.
Dougados M, Zittoun J, Laplane D, Castaigne P (June 1983). "Folate metabolism disorder in Kearns-Sayre syndrome". Annals of Neurology. 13 (6): 687. doi:10.1002/ana.410130624. PMID 6881934.
Gallagher RC, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C (May 2009). "Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy". Annals of Neurology. 65 (5): 550—6. doi:10.1002/ana.21568. PMID 19142996.
Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ (February 1994). "Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system". Journal of Neurology, Neurosurgery, and Psychiatry. 57 (2): 223—6. doi:10.1136/jnnp.57.2.223. PMC 1072457. PMID 8126512.
Ramaekers VT, Häusler M, Opladen T, Heimann G, Blau N (December 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. doi:10.1055/s-2002-37082. PMID 12571785.
Ramaekers VT, Blau N (December 2004). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 46 (12): 843—51. doi:10.1017/s0012162204001471. PMID 15581159.
Ramaekers VT, Rothenberg SP, Sequeira JM, Opladen T, Blau N, Quadros EV, Selhub J (May 2005). "Autoantibodies to folate receptors in the cerebral folate deficiency syndrome". The New England Journal of Medicine. 352 (19): 1985—91. doi:10.1056/NEJMoa043160. PMID 15888699.
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J (September 2009). "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism". American Journal of Human Genetics. 85 (3): 354—63. doi:10.1016/j.ajhg.2009.08.005. PMC 2771535. PMID 19732866.
Pappalardo MG, Di Nora A, Giugno A, Meli C, Sapuppo A, Pavone P, Fiumara A (September 2022). "Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl". Global Medical Genetics. 9 (3): 247—251. doi:10.1055/s-0042-1756661. PMC 9484871. PMID 36132999.
Ramaekers VT, Quadros EV (July 2022). "Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies". Nutrients. 14 (15). doi:10.3390/nu14153096. PMC 9370123. PMID 35956272.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H; et al. (2020). "CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression". J Med Genet. doi:10.1136/jmedgenet-2020-106987. PMC 7895856. PMID 32820034.{{cite journal}}: Википедия:Обслуживание CS1 (множественные имена: authors list) (ссылка)
Akiyama T, Kuki I, Kim K, Yamamoto N, Yamada Y, Igarashi K, Ishihara T, Hatano Y, Kobayashi K (November 2022). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood-cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6): 529—535. doi:10.1002/jmd2.12321. PMID 36341171.
Han X, Cao X, Cabrera RM, Pimienta Ramirez PA, Zhang C, Ramaekers VT, Finnell RH, Lei Y (December 2022). "KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency". Biology. 12 (1). doi:10.3390/biology12010074. PMC 9855468. PMID 36671766.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Messina M, Manea E, Cullup T, Tuschl K, Batzios S (January 2023). "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid". JIMD Reports. 64 (1): 42—52. doi:10.1002/jmd2.12347. PMC 9830023. PMID 36636587.
Potic A, Perrier S, Radovic T, Gavrilovic S, Ostojic J, Tran LT, Thiffault I, Pastinen T, Schiffmann R, Bernard G (July 2023). "Hypomyelination caused by a novel homozygous pathogenic variant in FOLR1: complete clinical and radiological recovery with oral folinic acid therapy and review of the literature". Orphanet Journal of Rare Diseases. 18 (1): 187. doi:10.1186/s13023-023-02802-6. PMID 37443037.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Bobrowski-Khoury N, Ramaekers VT, Sequeira JM, Quadros EV (July 2021). "Folate Receptor Alpha Autoantibodies in Autism Spectrum Disorders: Diagnosis, Treatment and Prevention". Journal of Personalized Medicine. 11 (8). doi:10.3390/jpm11080710. PMID 34442354.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Rossignol DA, Frye RE (November 2021). "Cerebral Folate Deficiency, Folate Receptor Alpha Autoantibodies and Leucovorin (Folinic Acid) Treatment in Autism Spectrum Disorders: A Systematic Review and Meta-Analysis". Journal of Personalized Medicine. 11 (11). doi:10.3390/jpm11111141. PMID 34834493.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Pan LA, Segreti AM, Wrobleski J, Shaw A, Hyland K, Hughes M, Finegold DN, Naviaux RK, Brent DA, Vockley J, Peters DG (November 2022). "Metabolomic disorders: confirmed presence of potentially treatable abnormalities in patients with treatment refractory depression and suicidal behavior". Psychological Medicine: 1—9. doi:10.1017/S0033291722003233. PMID 36330595.
Pan LA, Martin P, Zimmer T, Segreti AM, Kassiff S, McKain BW, Baca CA, Rengasamy M, Hyland K, Walano N, Steinfeld R, Hughes M, Dobrowolski SK, Pasquino M, Diler R, Perel J, Finegold DN, Peters DG, Naviaux RK, Brent DA, Vockley J (January 2017). "Neurometabolic Disorders: Potentially Treatable Abnormalities in Patients With Treatment-Refractory Depression and Suicidal Behavior". The American Journal of Psychiatry. 174 (1): 42—50. doi:10.1176/appi.ajp.2016.15111500. PMID 27523499.
Ramaekers VT, Sequeira JM, Quadros EV (July 2016). "The basis for folinic acid treatment in neuro-psychiatric disorders". Biochimie. 126: 79—90. doi:10.1016/j.biochi.2016.04.005. PMID 27068282.
Spector R, Johanson CE (August 2010). "Choroid plexus failure in the Kearns-Sayre syndrome". Cerebrospinal Fluid Research. 7: 14. doi:10.1186/1743-8454-7-14. PMC 2939631. PMID 20731822.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)

ncbi.nlm.nih.gov

Hyland K., Shoffner J., Heales S. J. Cerebral folate deficiency (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2010. — October (vol. 33, no. 5). — P. 563—570. — doi:10.1007/s10545-010-9159-6. — PMID 20668945.
Serrano M., Pérez-Dueñas B., Montoya J., Ormazabal A., Artuch R. Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects (англ.) // Drug Discovery Today^[англ.] : journal. — 2012. — Vol. 17, no. 23—24. — P. 1299—1306. — doi:10.1016/j.drudis.2012.07.008. — PMID 22835503.
Baumgartner, M. R. Vitamin-responsive disorders: cobalamin, folate, biotin, vitamins B1 and E (англ.) // Handbook of clinical neurology : journal. — 2013. — Vol. 113. — P. 1799—1810. — doi:10.1016/B978-0-444-59565-2.00049-6. — PMID 23622402.
Agadi S., Quach M. M., Haneef Z. Vitamin-responsive epileptic encephalopathies in children (англ.) // Epilepsy Research and Treatment : journal. — 2013. — Vol. 2013. — P. 510529. — doi:10.1155/2013/510529. — PMID 23984056. — PMC 3745849.
Stover PJ, Durga J, Field MS (April 2017). "Folate nutrition and blood-brain barrier dysfunction". Current Opinion in Biotechnology. 44: 146—152. doi:10.1016/j.copbio.2017.01.006. PMC 5385290. PMID 28189938.
Cosnahan A. S., Campbell C. T. Inborn Errors of Metabolism in Pediatric Epilepsy // The Journal of Pediatric Pharmacology and Therapeutics : JPPT : the Official Journal of PPAG. — 2019. — Т. 24, № 5. — С. 398—405. — doi:10.5863/1551-6776-24.5.398. — PMID 31598103. — PMC 6782122.
Pope S., Artuch R., Heales S., Rahman S. Cerebral folate deficiency: Analytical tests and differential diagnosis (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2019. — March. — doi:10.1002/jimd.12092. — PMID 30916789.
Wevers RA, Hansen SI, van Hellenberg Hubar JL, Holm J, Høier-Madsen M, Jongen PJ (February 1994). "Folate deficiency in cerebrospinal fluid associated with a defect in folate binding protein in the central nervous system". Journal of Neurology, Neurosurgery, and Psychiatry. 57 (2): 223—6. doi:10.1136/jnnp.57.2.223. PMC 1072457. PMID 8126512.
Steinfeld R, Grapp M, Kraetzner R, Dreha-Kulaczewski S, Helms G, Dechent P, Wevers R, Grosso S, Gärtner J (September 2009). "Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism". American Journal of Human Genetics. 85 (3): 354—63. doi:10.1016/j.ajhg.2009.08.005. PMC 2771535. PMID 19732866.
Pappalardo MG, Di Nora A, Giugno A, Meli C, Sapuppo A, Pavone P, Fiumara A (September 2022). "Dihydropyridine Reductase Deficiency: Acute Encephalopathy Related to Folinic Acid Treatment Interruption in a Girl". Global Medical Genetics. 9 (3): 247—251. doi:10.1055/s-0042-1756661. PMC 9484871. PMID 36132999.
Ramaekers VT, Quadros EV (July 2022). "Cerebral Folate Deficiency Syndrome: Early Diagnosis, Intervention and Treatment Strategies". Nutrients. 14 (15). doi:10.3390/nu14153096. PMC 9370123. PMID 35956272.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Masingue M., Benoist J. F., Roze E., Moussa F., Sedel F., Lubetzki C., Nadjar Y. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. (англ.) // Journal Of The Neurological Sciences. — 2019. — 15 January (vol. 396). — P. 112—118. — doi:10.1016/j.jns.2018.11.014. — PMID 30448717. [исправить]
Quijada-Fraile P., O'Callaghan M., Martín-Hernández E., Montero R., Garcia-Cazorla À, de Aragón AM et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome (англ.) // Orphanet Journal of Rare Diseases^[англ.] : journal. — 2014. — Vol. 9. — P. 217. — doi:10.1186/s13023-014-0217-2. — PMID 25539952. — PMC 4302586.
Cao X, Wolf A, Kim SE, Cabrera RM, Wlodarczyk BJ, Zhu H; et al. (2020). "CIC de novo loss of function variants contribute to cerebral folate deficiency by downregulating FOLR1 expression". J Med Genet. doi:10.1136/jmedgenet-2020-106987. PMC 7895856. PMID 32820034.{{cite journal}}: Википедия:Обслуживание CS1 (множественные имена: authors list) (ссылка)
Han X, Cao X, Cabrera RM, Pimienta Ramirez PA, Zhang C, Ramaekers VT, Finnell RH, Lei Y (December 2022). "KDM6B Variants May Contribute to the Pathophysiology of Human Cerebral Folate Deficiency". Biology. 12 (1). doi:10.3390/biology12010074. PMC 9855468. PMID 36671766.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)
Messina M, Manea E, Cullup T, Tuschl K, Batzios S (January 2023). "Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid". JIMD Reports. 64 (1): 42—52. doi:10.1002/jmd2.12347. PMC 9830023. PMID 36636587.
Spector R, Johanson CE (August 2010). "Choroid plexus failure in the Kearns-Sayre syndrome". Cerebrospinal Fluid Research. 7: 14. doi:10.1186/1743-8454-7-14. PMC 2939631. PMID 20731822.{{cite journal}}: Википедия:Обслуживание CS1 (не помеченный открытым DOI) (ссылка)

ghr.nlm.nih.gov

Cerebral folate transport deficiency (неопр.). Genetics Home Reference. Дата обращения: 7 января 2019. Архивировано 13 апреля 2019 года.

web.archive.org

Cerebral folate transport deficiency (неопр.). Genetics Home Reference. Дата обращения: 7 января 2019. Архивировано 13 апреля 2019 года.

wikipedia.org

en.wikipedia.org

Hyland K., Shoffner J., Heales S. J. Cerebral folate deficiency (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2010. — October (vol. 33, no. 5). — P. 563—570. — doi:10.1007/s10545-010-9159-6. — PMID 20668945.
Serrano M., Pérez-Dueñas B., Montoya J., Ormazabal A., Artuch R. Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects (англ.) // Drug Discovery Today^[англ.] : journal. — 2012. — Vol. 17, no. 23—24. — P. 1299—1306. — doi:10.1016/j.drudis.2012.07.008. — PMID 22835503.
Phillip L. Pearl, M. D. Inherited Metabolic Epilepsies. — Demos Medical Publishing^[англ.], 2012. — С. 3—. — ISBN 978-1-61705-056-5.
Pope S., Artuch R., Heales S., Rahman S. Cerebral folate deficiency: Analytical tests and differential diagnosis (англ.) // Journal of Inherited Metabolic Disease^[англ.] : journal. — 2019. — March. — doi:10.1002/jimd.12092. — PMID 30916789.
Quijada-Fraile P., O'Callaghan M., Martín-Hernández E., Montero R., Garcia-Cazorla À, de Aragón AM et al. Follow-up of folinic acid supplementation for patients with cerebral folate deficiency and Kearns-Sayre syndrome (англ.) // Orphanet Journal of Rare Diseases^[англ.] : journal. — 2014. — Vol. 9. — P. 217. — doi:10.1186/s13023-014-0217-2. — PMID 25539952. — PMC 4302586.

ru.wikipedia.org

Masingue M., Benoist J. F., Roze E., Moussa F., Sedel F., Lubetzki C., Nadjar Y. Cerebral folate deficiency in adults: A heterogeneous potentially treatable condition. (англ.) // Journal Of The Neurological Sciences. — 2019. — 15 January (vol. 396). — P. 112—118. — doi:10.1016/j.jns.2018.11.014. — PMID 30448717. [исправить]
Korinthenberg Rudolf, Kirschner Janbernd, Eckenweiler Matthias, Steinfeld Robert, Tatishvili Nana Nino, Horvath Rita, Kleinle Stephanie, Abicht Angela. Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report (англ.) // Journal of the International Child Neurology Association. — 2021. — 9 October (vol. 1, no. 1). — ISSN 2410-6410. — doi:10.17724/jicna.2020.216. [исправить]

worldcat.org

Korinthenberg Rudolf, Kirschner Janbernd, Eckenweiler Matthias, Steinfeld Robert, Tatishvili Nana Nino, Horvath Rita, Kleinle Stephanie, Abicht Angela. Alpers- and MNGIE-like disease with disturbed CSF folate transport and an unusual mode of genetic transmission of POLG mutations: a case report (англ.) // Journal of the International Child Neurology Association. — 2021. — 9 October (vol. 1, no. 1). — ISSN 2410-6410. — doi:10.17724/jicna.2020.216. [исправить]