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#智力障碍#

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followStatus=false, userIsMember=false, type=1, lengthMark=0)] 风湿免疫小助手

智力障碍

2020-05-29

梅斯管理员 (审核中...)

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#癫痫# #智力障碍#

Brain：癫痫儿童的长期神经心理学轨迹：手术会延缓下降吗？

2024-08-08发表于上海

梅斯管理员 (审核中...)

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#ASD# #智力障碍# #丙酸血症#

Mol Psychiatry ：酸血症中的智力障碍和自闭症：涉及线粒体生物学失调的生物标志物行为研究

2024-01-17发表于湖南省

侠胆医心 (审核中...)

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全文收起 #Phelan-McDermid综合征#咨询的共识建议: 特别注意复发风险和环22号染色体#SHANK3基因##神经发育障碍##罕见病# Phelan-McDermid综合征(Phelan-McDermid syndrome，PMS)(MIM 6062322)是由22号染色体长臂末端缺失引起的较为罕见的#遗传性疾病#，男女发病率无明显差异。一项对11000多例发育障碍患者亚端粒重排的研究，发现22q13是仅次于1p36的第二常见亚端粒重排区，会导致显著的染色体疾病，但由于临床上缺乏对该病的认识及相关检测技术的限制，其具体的患病率仍难以确定。有研究指出，80%~85%的PMS是"新发事件"。在新发患者中，发生缺失的染色体70%为父源性，该病的具体发病机制目前仍不清楚。PMS临床表现复杂多样，主要包括#全面发育落后#、#智力障碍#、#肌张力降低#、#语言发育迟缓#、轻度畸形及#自闭症#(autism spectrum disorde，ASD)等，由于其缺乏特异性的临床表现，经常被误诊。

Phelan-McDermid综合征咨询的共识建议: 特别注意复发风险和环22号染色体

2023-05-02发表于上海

mgqwxj (审核中...)

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#智力障碍#

病例：5岁智力障碍儿童

2021-08-07

mgqwxj (审核中...)

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#智力障碍#

JAMA Psychiatry：孕期贫血宝宝出生后患自闭症、多动症、智力障碍的风险增加

2019-10-11

mgqwxj (审核中...)

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#智力障碍#

J Appl Oral Sci:鼠李糖乳杆菌L8020发酵的牛奶可降低智力障碍患者牙周病的发病风险

2019-08-04

mgqwxj (审核中...)

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#智力障碍#

儿童智力障碍或全面发育迟缓病因诊断策略专家共识

2018-12-02

mgqwxj (审核中...)

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#智力障碍#

JAMA Psychiatry：妊娠期母亲抗抑郁药物使用会引发后代智力障碍？

2017-11-19

mgqwxj (审核中...)

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#智力障碍#

BMJ：孕期补充多种维生素，智力障碍自闭症风险降低30%！

2017-10-11

mgqwxj (审核中...)

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#智力障碍#

MOL PSYCHIATR：智力障碍小鼠模型的建立

2017-10-02

mgqwxj (审核中...)

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#智力障碍#

AM J HUM GENET: OTUD6B基因双等位变异可导致智力障碍综合征

2017-04-25

mgqwxj (审核中...)

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#智力障碍#

Mol Psychiatry.：基因研究为智力障碍精准治疗提供可能

2017-04-19

mgqwxj (审核中...)

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#智力障碍#

AM J HUM GENET：在OTUD6B的Biallelic突变体与引起智力障碍综合症与癫痫发作有关

2017-03-29

mgqwxj (审核中...)

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#智力障碍#

孕期接触有机氯，儿童患自闭症和智力障碍风险增加！

2016-08-26

mgqwxj (审核中...)

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#智力障碍#

NEJM：基因测序发现一种新型儿童智力障碍---碳酸酐酶VA缺乏症

2016-05-30

mgqwxj (审核中...)

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#智力障碍#

Nature：严重智力障碍的遗传学因素被揭示

2014-06-15

mgqwxj (审核中...)

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#智力障碍#

AJHG：智力障碍相关的蛋白质调控机制

2013-05-08

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