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Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.

作者信息

Karin Ivan, Borggraefe Ingo, Catarino Claudia B, Kuhm Christoph, Hoertnagel Konstanze, Biskup Saskia, Opladen Thomas, Blau Nenad, Heinen Florian, Klopstock Thomas

机构信息

Department of Neurology, Friedrich-Baur-Institute, University of Munich, Ziemssenstr. 1, 80336, Munich, Germany.

German Network for Mitochondrial Disorders (mitoNET), Munich, Germany.

出版信息

J Neurol. 2017 Mar;264(3):578-582. doi: 10.1007/s00415-016-8387-6. Epub 2017 Jan 4.

DOI:10.1007/s00415-016-8387-6
PMID:28054128
Abstract
摘要

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Brain Dev. 2017 Mar;39(3):266-270. doi: 10.1016/j.braindev.2016.09.011. Epub 2016 Oct 12.
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Neurological improvement following intravenous high-dose folinic acid for cerebral folate transporter deficiency caused by FOLR-1 mutation.静脉注射大剂量亚叶酸钙治疗由FOLR-1突变引起的脑叶酸转运蛋白缺乏症后的神经功能改善。
Eur J Paediatr Neurol. 2016 Sep;20(5):709-13. doi: 10.1016/j.ejpn.2016.05.021. Epub 2016 Jun 13.
3
Sensory stimulus-sensitive drop attacks and basal ganglia calcification: new findings in a patient with FOLR1 deficiency.
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Orphanet J Rare Dis. 2023 Jul 13;18(1):187. doi: 10.1186/s13023-023-02802-6.
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Cell Stress Chaperones. 2023 Mar;28(2):201-217. doi: 10.1007/s12192-023-01331-2. Epub 2023 Feb 16.
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Int J Mol Sci. 2022 Dec 30;24(1):660. doi: 10.3390/ijms24010660.
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