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Updated: Jul 12, 2025

One-step Metabolomics: Carbohydrates, Organic and Amino Acids Quantified in a Single Procedure
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Published on: June 25, 2010

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患有胆固醇血症的儿科患者:临床实践中的下一代测序和生物化学检查

Valentina V Miroshnikova1,2, Petr A Vasiluev3, Svetlana V Linkova4

  • 1Scientific Research Center, Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg 197022, Russia.

Journal of personalized medicine
|October 27, 2023
PubMed
概括

细胞血症是一种罕见的遗传性疾病,在儿科患者中通过下一代测序 (NGS) 诊断. 这种基因测试确定了特定的ABCG8基因变异,使得高血型植物醇水平的早期管理至关重要.

关键词:
在ABCG8变种中,ABCG8变种没有NGS,没有NGS.植物醇是一种植物醇.亚博体育ios 亚博体育ios 亚博体育ios 亚博体育ios

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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease10:16

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Gastrointestinal (GI) diagnostic studies are pivotal in confirming, ruling out, diagnosing, or staging various diseases, including cancers. Following diagnosis, allocating time for discussions with the patient and providing informational resources is crucial. Diagnostic assessments of the GI tract often occur in outpatient settings like endoscopy suites or GI labs. Preparation for these tests may include dietary restrictions, fasting, liquid bowel preparations, laxatives, enemas, and the...
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