Expanding the Neurological Phenotype of Adenosine Deaminase 2 Deficiency (DADA2 Syndrome) Due to Biallelic Mutations in the CECR1 Gene: A Treatable Pediatric Lacunar Stroke Syndrome

Soldatos A.; Toro C.; Ombrello A.; Stone D.; Hoffman P.; Romeo T.; Jones A.; Pinto-Patarroyo G.; Aksentijevich I; Grayson P.; Kastner D.

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Expanding the Neurological Phenotype of Adenosine Deaminase 2 Deficiency (DADA2 Syndrome) Due to Biallelic Mutations in the CECR1 Gene: A Treatable Pediatric Lacunar Stroke Syndrome

机译：扩大由于CECR1基因的双等位基因突变的腺苷脱氨酶2缺乏症（DADA2综合征）的神经表型：一种可治疗的小儿腔隙性中风综合征。

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来源
《Annals of neurology》 |2016年第s20期|共3页
作者
Soldatos A.; Toro C.; Ombrello A.; Stone D.; Hoffman P.; Romeo T.; Jones A.; Pinto-Patarroyo G.; Aksentijevich I; Grayson P.; Kastner D.;
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正文语种 eng
中图分类神经病学;
关键词
Stroke; Infections/Neuroimmunology; Genetics;

机译：中风;感染/神经免疫学;遗传学;

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1. Expanding the Neurological Phenotype of Adenosine Deaminase 2 Deficiency (DADA2 Syndrome) Due to Biallelic Mutations in the CECR1 Gene: A Treatable Pediatric Lacunar Stroke Syndrome [J] . Soldatos A., Toro C., Ombrello A., Annals of neurology . 2016,第S20期

机译：扩大由于CECR1基因的双等位基因突变的腺苷脱氨酶2缺乏症（DADA2综合征）的神经表型：一种可治疗的小儿腔隙性中风综合征。
2. A homozygote novel L451W mutation in CECR1 gene causes deficiency of adenosine deaminase 2 in a pediatric patient representing with chronic lymphoproliferation and cytopenia [J] . Ekinci Rabia Miray Kisla, Balci Sibel, Bisgin Atil, Pediatric Hematology and Oncology . 2019,第5a8期

机译：CECR1基因的Homozygote新型L451W突变导致腺苷脱氨酶2在代表慢性淋巴抑制和细胞贫腺的儿科患者中的缺乏
3. A 9.5-year-old boy with recurrent neurological manifestations and severe hypertension, treated initially for polyarteritis nodosa, was subsequently diagnosed with adenosine deaminase type 2 deficiency (DADA2) which responded to anti-TNF-alpha [J] . Sahin Sezgin, Adrovic Amra, Barut Kenan, Paediatrics and international child health . 2020,第1期

机译：最初对多性肌炎卵瘤的患有腺苷脱氨酸型缺乏（DADA2）的腺苷脱氨酸型缺乏症（DADA2）诊断出一种9.5岁的患有复发性神经系统表现和严重高血压的男孩。
4. Central nervous system immune activation and the neuropathogenesis of pediatric acquired immune deficiency syndrome in the simian immunodeficiency virus-infected rhesus macaque (Macaca mulatta). [D] . Bowenkamp, Kathryn Elizabeth. 2002

机译：猿猴免疫缺陷病毒感染的恒河猴（Macaca mulatta）的中枢神经系统免疫激活和小儿获得性免疫缺陷综合症的神经发病机制。
5. Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype Genetics Pathogenesis and Treatment [O] . Isabelle Meyts, Ivona Aksentijevich -1

机译：腺苷脱氨酶2（DADA2）的缺陷：表型遗传学发病机制和治疗的更新。
6. Novel CECR1 gene mutations causing deficiency of adenosine deaminase 2, mimicking antiphospholipid syndrome [O] . Aman Sharma, G S R S N K Naidu, Arghya Chattopadhyay, 2018

机译：新颖的CECR1基因突变导致腺苷脱氨酶2的缺乏，模拟抗磷脂综合征

Expanding the Neurological Phenotype of Adenosine Deaminase 2 Deficiency (DADA2 Syndrome) Due to Biallelic Mutations in the CECR1 Gene: A Treatable Pediatric Lacunar Stroke Syndrome

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