一名携带XK基因变异但无XK病（麦克劳德综合征）男性的基底神经节综合征 - Suppr

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超能文献

Basal Ganglia Syndrome in a Male With an XK Gene Variant but Without XK Disease (McLeod Syndrome).

作者信息

Yu Jeryl Ritzi T, Walker Ruth H, Danek Adrian, Westhoff Connie M, Vege Sunitha, Itin Ilia

机构信息

Institute for Neurosciences, St. Luke's Medical Center, Quezon City and Global City, Philippines.

University of the East, Ramon Magsaysay Memorial Medical Center, Quezon City, Philippines.

出版信息

J Mov Disord. 2024 Apr;17(2):226-229. doi: 10.14802/jmd.23196. Epub 2024 Jan 8.

DOI:10.14802/jmd.23196

PMID:38185097

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11082608/

Abstract

摘要

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/5c9c/11082608/eacb2e54c072/jmd-23196f1.jpg

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本文引用的文献

A partnership between the lipid scramblase XK and the lipid transfer protein VPS13A at the plasma membrane.

Proc Natl Acad Sci U S A. 2022 Aug 30;119(35):e2205425119. doi: 10.1073/pnas.2205425119. Epub 2022 Aug 22.

Interaction between VPS13A and the XK scramblase is important for VPS13A function in humans.

J Cell Sci. 2022 Sep 1;135(17). doi: 10.1242/jcs.260227. Epub 2022 Sep 8.

Three new XK alleles; two associated with a McLeod RBC phenotype.

Transfusion. 2021 Oct;61(10):E69-E70. doi: 10.1111/trf.16650. Epub 2021 Sep 6.

Molecular Basis and Clinical Overview of McLeod Syndrome Compared With Other Neuroacanthocytosis Syndromes: A Review.

JAMA Neurol. 2018 Dec 1;75(12):1554-1562. doi: 10.1001/jamaneurol.2018.2166.

The McLeod syndrome without acanthocytes.

Parkinsonism Relat Disord. 2008;14(4):364-6. doi: 10.1016/j.parkreldis.2007.07.011. Epub 2007 Sep 17.

McLeod phenotype without the McLeod syndrome.

Transfusion. 2007 Feb;47(2):299-305. doi: 10.1111/j.1537-2995.2007.01106.x.

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