المؤلفون: Sheila Suet-Na Wong, Liz Yuet-Ping Yuen, Elaine Kan, Nenad Blau, Richard Rodenburg, Ching-wan Lam, Virginia Chun-Nei Wong, Fanny Mochel, Ron A. Wevers, Cheuk-Wing Fung

المصدر: Molecular Genetics and Metabolism Reports, Vol 38, Iss , Pp 101023- (2024)

مصطلحات موضوعية: CYP2U1, Cerebral folate deficiency, Cerebral folate, Folinic acid, Spastic paraplegia 56, 5-methyltetrahydrofolate, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000691Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/3f9340edc6f641e7b32c95cdf0c3bfbdTest

المؤلفون: Ana Potic, Stefanie Perrier, Tijana Radovic, Svetlana Gavrilovic, Jelena Ostojic, Luan T. Tran, Isabelle Thiffault, Tomi Pastinen, Raphael Schiffmann, Geneviève Bernard

المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-17 (2023)

مصطلحات موضوعية: FOLR1, Hypomyelination, Leukodystrophy, Cerebral folate deficiency, Folinic acid, Medicine

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/1750-1172Test

الوصول الحر: https://doaj.org/article/069bc339519c472a91b38f2db7cff481Test

المؤلفون: Tomoyuki Akiyama, Ichiro Kuki, Kiyohiro Kim, Naohiro Yamamoto, Yumi Yamada, Kazuya Igarashi, Tomohiko Ishihara, Yuya Hatano, Katsuhiro Kobayashi

المصدر: JIMD Reports, Vol 63, Iss 6, Pp 529-535 (2022)

مصطلحات موضوعية: 5‐formyltetrahydrofolic acid, cerebral folate deficiency, folate receptor 1, folinic acid, Kearns‐Sayre syndrome, methylenetetrahydrofolate reductase deficiency, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/5777a91eae754e17a852a102daa09081Test

المؤلفون: Rabah Almahmoud, Mohammed Mekki, Ayman W. El-Hattab

المصدر: Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100975- (2023)

مصطلحات موضوعية: Cerebral folate deficiency, Folinic acid, FOLR1 mutation, Whole exome sequencing, Medicine (General), R5-920, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: http://www.sciencedirect.com/science/article/pii/S2214426923000216Test; https://doaj.org/toc/2214-4269Test

الوصول الحر: https://doaj.org/article/28f55c3e3f154dc7bbdce1376e2c0fa7Test

المؤلفون: Bobrowski-Khoury, Natasha, Sequeira, Jeffrey M, Quadros, Edward V

المصدر: Nutrients ; 15 ; 5 ; Switzerland

مصطلحات موضوعية: autism, brain uptake, cerebral folate deficiency, folate, folate receptor alpha, levofolinate

العلاقة: https://www.mdpi.com/2072-6643/15/5/1167Test; Bobrowski-Khoury N, Sequeira JM, Quadros EV. Brain Uptake of Folate Forms in the Presence of Folate Receptor Alpha Antibodies in Young Rats: Folate and Antibody Distribution. Nutrients. 2023 Feb 25;15(5):1167. doi:10.3390/nu15051167. PMID: 36904166; PMCID: PMC10005127.; http://hdl.handle.net/20.500.12648/8547Test; Nutrients

الإتاحة: https://doi.org/20.500.12648/8547Test
https://doi.org/10.3390/nu15051167Test
https://hdl.handle.net/20.500.12648/8547Test

المؤلفون: Natasha Bobrowski-Khoury, Jeffrey M. Sequeira, Edward V. Quadros

المصدر: Nutrients; Volume 15; Issue 5; Pages: 1167

مصطلحات موضوعية: folate, folate receptor alpha, levofolinate, brain uptake, autism, cerebral folate deficiency

جغرافية الموضوع: agris

وصف الملف: application/pdf

العلاقة: Micronutrients and Human Health; https://dx.doi.org/10.3390/nu15051167Test

الإتاحة: https://doi.org/10.3390/nu15051167Test

المؤلفون: Maria T. Papadopoulou, Efterpi Dalpa, Michalis Portokalas, Irene Katsanika, Katerina Tirothoulaki, Martha Spilioti, Spyros Gerou, Barbara Plecko, Athanasios E. Evangeliou

المصدر: JIMD Reports, Vol 60, Iss 1, Pp 3-9 (2021)

مصطلحات موضوعية: cerebral folate deficiency, epileptic spasms, folinic acid, FORL1, FRa, ketogenic diet, Diseases of the endocrine glands. Clinical endocrinology, RC648-665, Genetics, QH426-470

وصف الملف: electronic resource

العلاقة: https://doaj.org/toc/2192-8312Test

الوصول الحر: https://doaj.org/article/befcd840d36a45b8806cbf9daad17f2bTest

المؤلفون: Ramaekers, Vincent, Quadros, Edward V

المصدر: Nutrients, 14 (15), 3096 (2022-07-28)

مصطلحات موضوعية: cerebral folate deficiency, folate receptor autoantibodies, folate transport, inborn errors of folate metabolism, prenatal folate deficiency, FOLR1 protein, human, Folate Receptor 1, Folic Acid, Early Diagnosis, Folate Receptor 1/deficiency, Folate Receptor 1/genetics, Folate Receptor 1/therapeutic use, Humans, Neuroaxonal Dystrophies, Syndrome, Folic Acid/therapeutic use, Folic Acid Deficiency/metabolism, Folic Acid Deficiency, Food Science, Nutrition and Dietetics, Social & behavioral sciences, psychology, Treatment & clinical psychology, Human health sciences, Neurology, Sciences sociales & comportementales, psychologie, Traitement & psychologie clinique, Sciences de la santé humaine, Neurologie

العلاقة: https://www.mdpi.com/2072-6643/14/15/3096/pdfTest; urn:issn:2072-6643

الوصول الحر: https://orbi.uliege.be/handle/2268/301770Test

المؤلفون: Dreha-Kulaczewski, Steffi, Sahoo, Prativa, Preusse, Matthias, Gkalimani, Irini, Dechent, Peter, Helms, Gunther, Hofer, Sabine, Steinfeld, Robert, Gärtner, Jutta

المصدر: Journal of Inherited Metabolic Disease; pp 1-17 (2024) ; ISSN: 0141-8955

مصطلحات موضوعية: Radiology, Nuclear Medicine and Medical Imaging, biomarker, cerebral folate deficiency, folate receptorαdeficiency, folate therapy, hypomyelination, leukodystrophy, myelin MRI

العلاقة: https://lup.lub.lu.se/record/d289b3da-63d9-41be-a3cd-e825e631915dTest; http://dx.doi.org/10.1002/jimd.12713Test; pmid:38200656

الإتاحة: https://doi.org/10.1002/jimd.12713Test
https://lup.lub.lu.se/record/d289b3da-63d9-41be-a3cd-e825e631915dTest

المؤلفون: Xiao Han, Xuanye Cao, Robert M. Cabrera, Paula Andrea Pimienta Ramirez, Cuilian Zhang, Vincent T. Ramaekers, Richard H. Finnell, Yunping Lei

المصدر: Biology, Vol 12, Iss 1, p 74 (2022)

مصطلحات موضوعية: KDM6B, cerebral folate deficiency, FOLR1, H3K27me2, H3K27Ac, Biology (General), QH301-705.5

وصف الملف: electronic resource

العلاقة: https://www.mdpi.com/2079-7737/12/1/74Test; https://doaj.org/toc/2079-7737Test

الوصول الحر: https://doaj.org/article/96a3e0824dad41afaf523a1275d91bd3Test