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variants causing autosomal recessive macrothrombocytopenia without associated muscle wasting.

作者信息

Revel-Vilk Shoshana, Shai Ela, Turro Ernest, Jahshan Nivin, Hi-Am Esti, Spectre Galia, Daum Hagit, Kalish Yossef, Althaus Karina, Greinacher Andreas, Kaplinsky Chaim, Izraeli Shai, Mapeta Rutendo, Deevi Sri V V, Jarocha Danuta, Ouwehand Willem H, Downes Kate, Poncz Mortimer, Varon David, Lambert Michele P

机构信息

Pediatric Hematology/Oncology Unit, Department of Pediatrics, Shaare-Zedek Medical Center, and.

Coagulation Unit, Department of Hematology, Hadassah-Hebrew University Medical Center, Jerusalem, Israel.

出版信息

Blood. 2018 Oct 25;132(17):1851-1854. doi: 10.1182/blood-2018-04-845545. Epub 2018 Aug 31.

DOI:10.1182/blood-2018-04-845545
PMID:30171045
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6202914/
Abstract
摘要

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本文引用的文献

1
Mutation in is associated with severe congenital thrombocytopenia.[基因名称]的突变与严重先天性血小板减少症相关。 （注：原文中“Mutation in ”缺少具体基因名称，这里补充了[基因名称]以便完整表达意思）
Blood. 2018 Oct 25;132(17):1855-1858. doi: 10.1182/blood-2018-04-847798. Epub 2018 Jun 25.
2
Sialuria: Ninth Patient Described Has a Novel Mutation in GNE.唾液酸尿症：第九例报告患者的GNE基因存在新突变。
JIMD Rep. 2019;44:17-21. doi: 10.1007/8904_2018_117. Epub 2018 Jun 20.
3
Autism Spectrum Disorder: Primary Care Principles.自闭症谱系障碍：初级保健原则
Am Fam Physician. 2016 Dec 15;94(12):972-979.
4
Nationwide patient registry for GNE myopathy in Japan.日本GNE肌病全国患者登记处。
Orphanet J Rare Dis. 2014 Oct 11;9:150. doi: 10.1186/s13023-014-0150-4.
5
GNE myopathy associated with congenital thrombocytopenia: a report of two siblings.与先天性血小板减少症相关的GNE肌病：两例同胞病例报告。
Neuromuscul Disord. 2014 Dec;24(12):1068-72. doi: 10.1016/j.nmd.2014.07.008. Epub 2014 Aug 8.
6
GNE myopathy: current update and future therapy.GNE肌病：当前进展与未来治疗
J Neurol Neurosurg Psychiatry. 2015 Apr;86(4):385-92. doi: 10.1136/jnnp-2013-307051. Epub 2014 Jul 7.
7
Mutation update for GNE gene variants associated with GNE myopathy.与GNE肌病相关的GNE基因突变更新
Hum Mutat. 2014 Aug;35(8):915-26. doi: 10.1002/humu.22583.
8
A family with distal myopathy with rimmed vacuoles associated with thrombocytopenia.一个患有伴有血小板减少症的边缘空泡性远端肌病的家族。
Neurol Sci. 2014 Sep;35(9):1479-81. doi: 10.1007/s10072-014-1790-9. Epub 2014 Apr 16.
9
A novel type of macrothrombocytopenia associated with a defect in α2,3-sialylation.一种新型巨血小板减少症与α2,3-唾液酸化缺陷有关。
Am J Pathol. 2011 Oct;179(4):1969-77. doi: 10.1016/j.ajpath.2011.06.012. Epub 2011 Aug 22.
10
Sialic Acid: its importance to platelet function in health and disease.唾液酸：它在健康和疾病中对血小板功能的重要性。
Platelets. 1991;2(1):1-10. doi: 10.3109/09537109109005496.