Ganglioglioma with novel molecular features presenting in a child with Allan-Herndon-Dudley syndrome.
作者信息
Adams Jason W, Malicki Denise, Levy Michael, Crawford John Ross
机构信息
Neurosciences, University of California San Diego, La Jolla, California, USA.
Pathology, Rady Children's Hospital University of California San Diego, San Diego, California, USA.
出版信息
BMJ Case Rep. 2022 Mar 2;15(3):e248734. doi: 10.1136/bcr-2021-248734.
Abstract
摘要
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J Clin Endocrinol Metab. 2022 Feb 17;107(3):e1136-e1147. doi: 10.1210/clinem/dgab750.
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Monocarboxylate transporter 8 deficiency: update on clinical characteristics and treatment.单羧酸转运蛋白 8 缺乏症：临床特征和治疗的最新进展。
Endocrine. 2021 Mar;71(3):689-695. doi: 10.1007/s12020-020-02603-y. Epub 2021 Mar 1.
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Absence of Both Thyroid Hormone Transporters MCT8 and OATP1C1 Impairs Neural Stem Cell Fate in the Adult Mouse Subventricular Zone.甲状腺激素转运体 MCT8 和 OATP1C1 缺失会影响成年小鼠侧脑室下区神经干细胞的命运。
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Prenatal Treatment of Thyroid Hormone Cell Membrane Transport Defect Caused by Gene Mutation.产前治疗基因突变导致的甲状腺激素细胞膜转运缺陷。
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Dev Med Child Neurol. 2019 Dec;61(12):1439-1447. doi: 10.1111/dmcn.14332. Epub 2019 Aug 13.
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Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial.三碘甲状腺原氨酸类似物 Triac 在儿童和成人 MCT8 缺乏症中的疗效和安全性：一项国际、单臂、开放标签、2 期临床试验。
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