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首页> 外文期刊>Clinics in laboratory medicine >Approaches to the patient with neurogenetic disease.
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Approaches to the patient with neurogenetic disease.

机译:对患有神经遗传性疾病的患者的处理。

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摘要

The clinical practice of neurogenetics is complex, challenging, and rewarding. Several guidelines are helpful. This article briefly focuses on 8 aspects of clinical neurogenetics, namely (1) factors suggesting the presence of a genetic disease, (2) nonspecific categories that may be hiding neurogenetic diseases, (3) importance of family history, (4) assessment of sporadic cases, (5) genetic counseling, (6) genetic testing, (7) available information resources, and (8) integration of the clinical neurogenetic strategy.
机译:神经遗传学的临床实践是复杂,具有挑战性和有益的。几个准则是有帮助的。本文简要介绍了临床神经遗传学的8个方面,即(1)提示存在遗传疾病的因素;(2)可能隐藏神经遗传病的非特异性类别;(3)家族史的重要性;(4)散发性评估案例,(5)遗传咨询,(6)遗传检测,(7)可用信息资源以及(8)临床神经遗传学策略的整合。

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