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Teaching NeuroImages: White matter hypomyelination and progressive calcifications in cerebral folate deficiency.

作者信息

Nicolai Joost, van Kempen Marjan J A, Postma Alida A

机构信息

From the Departments of Neurology (J.N.) and Radiology (A.A.P.), Maastricht University Medical Center; and Department of Medical Genetics (M.J.A.v.K.), University Medical Center Utrecht, the Netherlands.

出版信息

Neurology. 2016 Jul 5;87(1):e4-5. doi: 10.1212/WNL.0000000000002805.

DOI:10.1212/WNL.0000000000002805
PMID:27378809
Abstract
摘要

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Int J Mol Sci. 2024 Sep 23;25(18):10205. doi: 10.3390/ijms251810205.
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Gene Variation With Adult-Onset Cerebral Folate Deficiency and Stable Clinical and MRI Features up to 2 Years.成人期脑叶酸缺乏相关的基因变异及长达2年的稳定临床和MRI特征
Neurol Genet. 2023 Oct 24;9(6):e200104. doi: 10.1212/NXG.0000000000200104. eCollection 2023 Dec.
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Brain Uptake of Folate Forms in the Presence of Folate Receptor Alpha Antibodies in Young Rats: Folate and Antibody Distribution.
年轻大鼠体内叶酸受体 α 抗体存在时叶酸形式的脑摄取:叶酸和抗体分布。
Nutrients. 2023 Feb 25;15(5):1167. doi: 10.3390/nu15051167.
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Implication of folate deficiency in CYP2U1 loss of function.叶酸缺乏对 CYP2U1 功能丧失的影响。
J Exp Med. 2021 Nov 1;218(11). doi: 10.1084/jem.20210846. Epub 2021 Sep 21.
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Hypomyelinating disorders in China: The clinical and genetic heterogeneity in 119 patients.中国的髓鞘形成不良性疾病:119例患者的临床及遗传异质性
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