首页> Journal of the neurological sciences> A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

A case of homocystinuria due to CBS gene mutations revealed by cerebral venous thrombosis.

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第一作者： Mariana,Sarov

第一单位： Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France.

作者： Mariana,Sarov ^[1] ; Adeline,Not ^[2] ; Hélène Ogier,de Baulny ^[3] ; Pascal,Masnou ^[2] ; Katayoun,Vahedi ^[4] ; Marie-Germaine,Bousser ^[5] ; Christian,Denier ^[6]

作者单位： Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France. ^[1] Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France. ^[2] Pediatry Department, Robert Debré Hospital, AP-HP, France. ^[3] Neurology Unit, Hôpital Privé d'Antony, France. ^[4] Neurology Department, Lariboisière Hospital, AP-HP, Paris, France. ^[5] Neurology Department, Bicêtre Hospital Assistance Publique - Hôpitaux de Paris (AP-HP), France; Paris-Sud University, Le Kremlin Bicêtre, France; INSERM U788, Le Kremlin-Bicêtre, France. Electronic address: christian.denier@bct.aphp.fr. ^[6]

关键词 Cerebral venous thrombosis Cystathionine beta synthase (CBS)Hyperhomocysteinemia Methionine Thromboembolic Vascular

医学主题词青少年(Adolescent);胱硫醚β合酶(Cystathionine beta-Synthase);女(雌)性(Female);高胱氨酸尿(Homocystinuria);人类(Humans);颅内血栓形成(Intracranial Thrombosis);突变(Mutation)

DOI 10.1016/j.jns.2013.10.009

PMID 24169224

发布时间 2014-01-17

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