Cerebral folate deficiency (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Cerebral folate deficiency" in English language version.

refsWebsite

Global rank English rank

21nih.gov

4^th place

14doi.org

2^nd place

6semanticscholar.org

11^th place

8^th place

4worldcat.org

5^th place

2wiley.com

222^nd place

297^th place

1web.archive.org

1^st place

1books.google.com

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1rarediseases.org

5,181^st place

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1ucl.ac.uk

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885^th place

books.google.com

Phillip L. Pearl, MD (4 October 2012). Inherited Metabolic Epilepsies. Demos Medical Publishing. pp. 3–. ISBN 978-1-61705-056-5.

doi.org

Gordon, N (2009). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. PMID 19260931. S2CID 7373721.
Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal A, Artuch R (2012). "Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects". Drug Discovery Today. 17 (23–24): 1299–1306. doi:10.1016/j.drudis.2012.07.008. PMID 22835503.
Baumgartner, MR (2013). "Vitamin-responsive disorders". Pediatric Neurology Part III. Handbook of Clinical Neurology. Vol. 113. pp. 1799–1810. doi:10.1016/B978-0-444-59565-2.00049-6. ISBN 9780444595652. PMID 23622402.
Hyland K, Shoffner J, Heales SJ (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. PMID 20668945. S2CID 25555372.
Agadi S, Quach MM, Haneef Z (2013). "Vitamin-responsive epileptic encephalopathies in children". Epilepsy Research and Treatment. 2013: 510529. doi:10.1155/2013/510529. PMC 3745849. PMID 23984056.
Zhao R, Aluri S, Goldman ID (2017). "The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular Aspects of Medicine. 53: 57–72. doi:10.1016/j.mam.2016.09.002. PMC 5253092. PMID 27664775.
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): 762. doi:10.3390/brainsci10110762. PMC 7690394. PMID 33105619.
Gordon, Neil (2009). "Cerebral folate deficiency". Developmental Medicine & Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. ISSN 1469-8749. PMID 19260931. S2CID 7373721.
McFarland, Robert (2012-07-01). "Cerebral folate deficiency—mishaps and misdirection". Brain. 135 (7): 2002–2003. doi:10.1093/brain/aws166. ISSN 0006-8950. PMID 22734130.
Wassenberg, et al. (2017). "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency". Orphanet J Rare Dis. 12 (1): 12. doi:10.1186/s13023-016-0522-z. PMC 5241937. PMID 28100251.
Pope S, Artuch R, Heales S, Rahman S (July 2019). "Cerebral folate deficiency: Analytical tests and differential diagnosis" (PDF). Journal of Inherited Metabolic Disease. 42 (4): 655–672. doi:10.1002/jimd.12092. PMID 30916789. S2CID 85533164.
Hyland, Keith; Shoffner, John; Heales, Simon J. (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. ISSN 1573-2665. PMID 20668945. S2CID 25555372.
Desai A, Sequeira JM, Quadros EV (2016). "The metabolic basis for developmental disorders due to defective folate transport". Biochimie. 126: 31–42. doi:10.1016/j.biochi.2016.02.012. PMID 26924398.
Akiyama, Tomoyuki; Kuki, Ichiro; Kim, Kiyohiro; Yamamoto, Naohiro; Yamada, Yumi; Igarashi, Kazuya; Ishihara, Tomohiko; Hatano, Yuya; Kobayashi, Katsuhiro (2022-08-06). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6). Wiley: 529–535. doi:10.1002/jmd2.12321. ISSN 2192-8312. PMC 9626660. PMID 36341171. S2CID 251426837.

nih.gov

pubmed.ncbi.nlm.nih.gov

Gordon, N (2009). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. PMID 19260931. S2CID 7373721.
Serrano M, Pérez-Dueñas B, Montoya J, Ormazabal A, Artuch R (2012). "Genetic causes of cerebral folate deficiency: clinical, biochemical and therapeutic aspects". Drug Discovery Today. 17 (23–24): 1299–1306. doi:10.1016/j.drudis.2012.07.008. PMID 22835503.
Baumgartner, MR (2013). "Vitamin-responsive disorders". Pediatric Neurology Part III. Handbook of Clinical Neurology. Vol. 113. pp. 1799–1810. doi:10.1016/B978-0-444-59565-2.00049-6. ISBN 9780444595652. PMID 23622402.
Hyland K, Shoffner J, Heales SJ (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. PMID 20668945. S2CID 25555372.
Agadi S, Quach MM, Haneef Z (2013). "Vitamin-responsive epileptic encephalopathies in children". Epilepsy Research and Treatment. 2013: 510529. doi:10.1155/2013/510529. PMC 3745849. PMID 23984056.
Zhao R, Aluri S, Goldman ID (2017). "The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular Aspects of Medicine. 53: 57–72. doi:10.1016/j.mam.2016.09.002. PMC 5253092. PMID 27664775.
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): 762. doi:10.3390/brainsci10110762. PMC 7690394. PMID 33105619.
Gordon, Neil (2009). "Cerebral folate deficiency". Developmental Medicine & Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. ISSN 1469-8749. PMID 19260931. S2CID 7373721.
McFarland, Robert (2012-07-01). "Cerebral folate deficiency—mishaps and misdirection". Brain. 135 (7): 2002–2003. doi:10.1093/brain/aws166. ISSN 0006-8950. PMID 22734130.
Wassenberg, et al. (2017). "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency". Orphanet J Rare Dis. 12 (1): 12. doi:10.1186/s13023-016-0522-z. PMC 5241937. PMID 28100251.
Pope S, Artuch R, Heales S, Rahman S (July 2019). "Cerebral folate deficiency: Analytical tests and differential diagnosis" (PDF). Journal of Inherited Metabolic Disease. 42 (4): 655–672. doi:10.1002/jimd.12092. PMID 30916789. S2CID 85533164.
Hyland, Keith; Shoffner, John; Heales, Simon J. (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. ISSN 1573-2665. PMID 20668945. S2CID 25555372.
Desai A, Sequeira JM, Quadros EV (2016). "The metabolic basis for developmental disorders due to defective folate transport". Biochimie. 126: 31–42. doi:10.1016/j.biochi.2016.02.012. PMID 26924398.
Akiyama, Tomoyuki; Kuki, Ichiro; Kim, Kiyohiro; Yamamoto, Naohiro; Yamada, Yumi; Igarashi, Kazuya; Ishihara, Tomohiko; Hatano, Yuya; Kobayashi, Katsuhiro (2022-08-06). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6). Wiley: 529–535. doi:10.1002/jmd2.12321. ISSN 2192-8312. PMC 9626660. PMID 36341171. S2CID 251426837.

ncbi.nlm.nih.gov

Agadi S, Quach MM, Haneef Z (2013). "Vitamin-responsive epileptic encephalopathies in children". Epilepsy Research and Treatment. 2013: 510529. doi:10.1155/2013/510529. PMC 3745849. PMID 23984056.
Zhao R, Aluri S, Goldman ID (2017). "The proton-coupled folate transporter (PCFT-SLC46A1) and the syndrome of systemic and cerebral folate deficiency of infancy: Hereditary folate malabsorption". Molecular Aspects of Medicine. 53: 57–72. doi:10.1016/j.mam.2016.09.002. PMC 5253092. PMID 27664775.
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): 762. doi:10.3390/brainsci10110762. PMC 7690394. PMID 33105619.
Wassenberg, et al. (2017). "Consensus guideline for the diagnosis and treatment of aromatic l-amino acid decarboxylase (AADC) deficiency". Orphanet J Rare Dis. 12 (1): 12. doi:10.1186/s13023-016-0522-z. PMC 5241937. PMID 28100251.
Akiyama, Tomoyuki; Kuki, Ichiro; Kim, Kiyohiro; Yamamoto, Naohiro; Yamada, Yumi; Igarashi, Kazuya; Ishihara, Tomohiko; Hatano, Yuya; Kobayashi, Katsuhiro (2022-08-06). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6). Wiley: 529–535. doi:10.1002/jmd2.12321. ISSN 2192-8312. PMC 9626660. PMID 36341171. S2CID 251426837.

rarediseases.info.nih.gov

"Cerebral folate deficiency". rarediseases.info.nih.gov. Archived from the original on 8 January 2019. Retrieved 7 January 2019.

ghr.nlm.nih.gov

"Cerebral folate transport deficiency". Genetics Home Reference. Retrieved 7 January 2019.

rarediseases.org

"Cerebral Folate Deficiency". NORD (National Organization for Rare Disorders). Retrieved 2021-04-06.

semanticscholar.org

api.semanticscholar.org

Gordon, N (2009). "Cerebral folate deficiency". Developmental Medicine and Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. PMID 19260931. S2CID 7373721.
Hyland K, Shoffner J, Heales SJ (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. PMID 20668945. S2CID 25555372.
Gordon, Neil (2009). "Cerebral folate deficiency". Developmental Medicine & Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. ISSN 1469-8749. PMID 19260931. S2CID 7373721.
Pope S, Artuch R, Heales S, Rahman S (July 2019). "Cerebral folate deficiency: Analytical tests and differential diagnosis" (PDF). Journal of Inherited Metabolic Disease. 42 (4): 655–672. doi:10.1002/jimd.12092. PMID 30916789. S2CID 85533164.
Hyland, Keith; Shoffner, John; Heales, Simon J. (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. ISSN 1573-2665. PMID 20668945. S2CID 25555372.
Akiyama, Tomoyuki; Kuki, Ichiro; Kim, Kiyohiro; Yamamoto, Naohiro; Yamada, Yumi; Igarashi, Kazuya; Ishihara, Tomohiko; Hatano, Yuya; Kobayashi, Katsuhiro (2022-08-06). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6). Wiley: 529–535. doi:10.1002/jmd2.12321. ISSN 2192-8312. PMC 9626660. PMID 36341171. S2CID 251426837.

ucl.ac.uk

discovery.ucl.ac.uk

Pope S, Artuch R, Heales S, Rahman S (July 2019). "Cerebral folate deficiency: Analytical tests and differential diagnosis" (PDF). Journal of Inherited Metabolic Disease. 42 (4): 655–672. doi:10.1002/jimd.12092. PMID 30916789. S2CID 85533164.

web.archive.org

"Cerebral folate deficiency". rarediseases.info.nih.gov. Archived from the original on 8 January 2019. Retrieved 7 January 2019.

wiley.com

onlinelibrary.wiley.com

Gordon, Neil (2009). "Cerebral folate deficiency". Developmental Medicine & Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. ISSN 1469-8749. PMID 19260931. S2CID 7373721.
Hyland, Keith; Shoffner, John; Heales, Simon J. (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. ISSN 1573-2665. PMID 20668945. S2CID 25555372.

worldcat.org

search.worldcat.org

Gordon, Neil (2009). "Cerebral folate deficiency". Developmental Medicine & Child Neurology. 51 (3): 180–182. doi:10.1111/j.1469-8749.2008.03185.x. ISSN 1469-8749. PMID 19260931. S2CID 7373721.
McFarland, Robert (2012-07-01). "Cerebral folate deficiency—mishaps and misdirection". Brain. 135 (7): 2002–2003. doi:10.1093/brain/aws166. ISSN 0006-8950. PMID 22734130.
Hyland, Keith; Shoffner, John; Heales, Simon J. (2010). "Cerebral folate deficiency". Journal of Inherited Metabolic Disease. 33 (5): 563–570. doi:10.1007/s10545-010-9159-6. ISSN 1573-2665. PMID 20668945. S2CID 25555372.
Akiyama, Tomoyuki; Kuki, Ichiro; Kim, Kiyohiro; Yamamoto, Naohiro; Yamada, Yumi; Igarashi, Kazuya; Ishihara, Tomohiko; Hatano, Yuya; Kobayashi, Katsuhiro (2022-08-06). "Folic acid inhibits 5-methyltetrahydrofolate transport across the blood–cerebrospinal fluid barrier: Clinical biochemical data from two cases". JIMD Reports. 63 (6). Wiley: 529–535. doi:10.1002/jmd2.12321. ISSN 2192-8312. PMC 9626660. PMID 36341171. S2CID 251426837.