Next Generation Sequencing: New Hope for Patients with Undiagnosed Metabolic Disorders

来源 :2013第三届内分泌与代谢大会暨2013第二届糖尿病大会 | 被引量 : 0次 | 上传用户:foxylxq
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  Metabolic diseases consist of, typically hereditary, heterogeneous groups of health conditions that arise from critical interruption in metabolic pathways.These conditions are categorized into two types: a.common metabolic diseases with complex phenotypes and multiple genetic and environmental risk factors (such as diabetes and obesity) and b.monogenic, or rare, metabolic diseases (such as Tay-Sachs or Gaucher syndromes) which have more precise phenotype and are transmitted by Mendelian inheritance.
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