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Searching, Structural Determination, and Diagnostic Performance Evaluation of Biomarker Molecules for Niemann–Pick Disease Type C Using Liquid Chromatography/Tandem Mass Spectrometry
Niemann–Pick disease type C (NPC) is an autosomal recessive disorder that is characterized by progressive neuronal degeneration. Patients with NPC have a wide age of onset and various clinical symptoms. Therefore, the discovery and diagnosis of NPC are very difficult. Conventional laboratory tests a...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Mass Spectrometry Society of Japan
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9853955/ https://www.ncbi.nlm.nih.gov/pubmed/36713801 http://dx.doi.org/10.5702/massspectrometry.A0111 |