首页> 外国专利> methods for screening for a defective allele of a cofactor-administered enzyme-coding gene, for detecting a predisposition to a cofactor-dependent enzyme deficiency, for identifying and / or characterizing an enzyme deficiency within a metabolic pathway in a patient , to treat a metabolic enzyme deficiency in a patient, to screen for the risk of a condition or disease associated with aberrant foliate / homocysteine metabolism, to screen for potential chemotherapeutic response, and to screen for chemotherapeutic toxicity, to evaluate remediable enzyme deficiencies in a metabolic pathway, isolated nucleic acid, arrangement to detect a defective allele of a gene in the foliate / homocysteine metabolic pathway

methods for screening for a defective allele of a cofactor-administered enzyme-coding gene, for detecting a predisposition to a cofactor-dependent enzyme deficiency, for identifying and / or characterizing an enzyme deficiency within a metabolic pathway in a patient , to treat a metabolic enzyme deficiency in a patient, to screen for the risk of a condition or disease associated with aberrant foliate / homocysteine metabolism, to screen for potential chemotherapeutic response, and to screen for chemotherapeutic toxicity, to evaluate remediable enzyme deficiencies in a metabolic pathway, isolated nucleic acid, arrangement to detect a defective allele of a gene in the foliate / homocysteine metabolic pathway

机译:筛选辅因子给药的酶编码基因的缺陷等位基因,检测辅因子依赖性酶缺乏症的易感性,鉴定和/或表征患者代谢途径内酶缺乏症,治疗代谢的方法患者体内酶缺乏症,筛查与叶酸/同型半胱氨酸代谢异常有关的疾病或疾病的风险,筛查潜在的化疗反应,筛查化学疗法的毒性,评估代谢途径中可修复的酶缺乏症,分离的核酸酸,用于检测叶酸/同型半胱氨酸代谢途径中基因的缺陷等位基因

摘要

The invention is directed to enzyme variants, responsiveness thereof to cofactors, and in vivo assays for testing the activity of enzyme variants as well as the responsiveness thereof to cofactors.
机译:本发明涉及酶变体,其对辅因子的响应性以及用于测试酶变体活性及其对辅因子的响应性的体内测定。

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