公开(公告)号：US08497122B2

公开(公告)日：2013-07-30

申请号：US12385529

申请日：2009-04-10

申请人： Daniel S. Ory ,  Forbes D. Porter

发明人： Daniel S. Ory ,  Forbes D. Porter

IPC分类号： C12N5/071

CPC分类号： G01N33/92 ,  G01N30/7206 ,  G01N33/6893 ,  G01N33/6896 ,  G01N2800/044 ,  G01N2800/28 ,  G01N2800/2857 ,  G01N2800/52 ,  G01N2800/56

摘要： Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.

摘要翻译： 用于筛选或诊断涉及一种或多种氧固醇积累的疾病的受试者的方法，例如细胞毒素氧固醇积累，尼曼 - 皮克C（NPC）疾病，溶酶体贮积病，胆固醇运输疾病和神经变性疾病。 还提供了用于筛选或诊断NPC疾病的受试者（包括婴儿和新生儿受试者）的方法的方法，用于监测NPC疾病的进展，缓解和临床状态的方法以及评估NPC疾病治疗性治疗功效的方法。

公开(公告)号：US20090286272A1

公开(公告)日：2009-11-19

申请号：US12385529

申请日：2009-04-10

申请人： Daniel S. Ory ,  Forbes D. Porter

发明人： Daniel S. Ory ,  Forbes D. Porter

IPC分类号： C12Q1/02

CPC分类号： G01N33/92 ,  G01N30/7206 ,  G01N33/6893 ,  G01N33/6896 ,  G01N2800/044 ,  G01N2800/28 ,  G01N2800/2857 ,  G01N2800/52 ,  G01N2800/56

摘要： Methods for screening or diagnosing subjects for disorders involving accumulation of one or more oxysterols such as cytotoxic oxysterol accumulation, Niemann-Pick C(NPC) disease, lysosomal storage diseases, cholesterol trafficking diseases, and neurodegenerative diseases. Also provided are methods for methods for screening or diagnosing subjects (including infants and neonatal subjects) for NPC disease, methods for monitoring the progression, remission, and clinical status of NPC disease, and methods for evaluating the efficacy of therapeutic treatment of NPC disease.

摘要翻译： 用于筛选或诊断涉及一种或多种氧固醇积累的疾病的受试者的方法，例如细胞毒素氧固醇积累，尼曼 - 皮克C（NPC）疾病，溶酶体贮积病，胆固醇运输疾病和神经变性疾病。 还提供了用于筛选或诊断NPC疾病的受试者（包括婴儿和新生儿受试者）的方法的方法，用于监测NPC疾病的进展，缓解和临床状态的方法以及评估NPC疾病治疗性治疗功效的方法。