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Identification of Two Sulfated Cholesterol Metabolites Found in the Urine of a Patient with Niemann–Pick Disease Type C as Novel Candidate Diagnostic Markers
In the urine of a Niemann–Pick disease type C (NPC) patient, we have identified three characteristic intense peaks that have not been observed in the urine of a 3β-hydroxysteroid-Δ(5)-C(27)-steroid dehydrogenase deficiency patient or a healthy infant and adult. Based on accurate masses of the proton...
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| Publicat a: | Mass Spectrom (Tokyo) |
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| Autors principals: | , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
The Mass Spectrometry Society of Japan
2016
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5121193/ https://ncbi.nlm.nih.gov/pubmed/27900236 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.5702/massspectrometry.S0053 |
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