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机译:Canavan病的临床鲜明表型与残留的阿巴醇酶活性相关
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Edmond &
Lily Safra Childrens Hosp Sheba Med Ctr Ramat Gan Israel;
Univ Hosp Ctr Zagreb Dept Pediat Zagreb Croatia;
Admiraal De Ruyter Ziekenhuis Dept Pediat Goes Zeeland Netherlands;
Univ Barcelona Hosp St Joan Deu CIBERER ISCIII Neurol Dept Barcelona Spain;
Radboud Univ Nijmegen Med Ctr Metab Dis Dept Pediat Nijmegen Netherlands;
Kariminejad Najmabadi Pathol &
Genet Ctr Tehran Iran;
Koc Univ Sch Med KUSOM Dept Med Genet Istanbul Turkey;
Hop Gui De Chauliac Dept Neuropediat Montpellier Languedoc Rouss France;
Univ Groningen Univ Med Ctr Groningen Beatrix Childrens Hosp Groningen Netherlands;
Ctr Biol &
Pathol Est CHU Lyon Serv Malad Hereditaires Metab &
Depistage Neonata Lyon France;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Vrije Univ Amsterdam Med Ctr Dept Clin Chem Metab Unit Amsterdam Neurosci Amsterdam Netherlands;
Canavan disease; ASPA; ASPA activity; missense variants; clinical phenotype; functional assay;
机译:Canavan病的临床鲜明表型与残留的阿巴醇酶活性相关
机译:天冬氨酸酰基转移酶的结构,在Canavan病中受损的脑酶
机译:鉴定人天冬氨酸酰化酶中的锌结合配体和催化残基
机译:乳腺癌和妇科恶性肿瘤中最少的残留疾病:表型和临床相关性
机译:Canavan病大鼠模型中震颤突变体和AAV介导的天冬氨酸酶基因转移的表型特征
机译:Canavan病的临床独特表型与残余天冬氨酸酰化酶活性相关
机译:在Behçet病患者中,腺苷脱氨酶活性增加并且与过氧化氢酶,超氧化物歧化酶和谷胱甘肽过氧化物酶呈负相关:原始贡献/临床和实验室研究。
机译:Canavan病的分子基础:天冬氨酰酶酶特性