Investigation of diagnostic performance of five urinary cholesterol metabolites for Niemann-Pick disease type C

Niemann-Pick disease type C (NPC) is an autosomal recessive disorder characterized by progressive nervous degeneration. Because of the diversity of clinical symptoms and onset age, the diagnosis of this disease is difficult. Therefore, biomarker tests have attracted significant attention for earlier...

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Detalhes bibliográficos
Publicado no:J Lipid Res
Main Authors: Maekawa, Masamitsu, Jinnoh, Isamu, Narita, Aya, Iida, Takashi, Saigusa, Daisuke, Iwahori, Anna, Nittono, Hiroshi, Okuyama, Torayuki, Eto, Yoshikatsu, Ohno, Kousaku, Clayton, Peter T., Yamaguchi, Hiroaki, Mano, Nariyasu
Formato: Artigo
Idioma:Inglês
Publicado em: The American Society for Biochemistry and Molecular Biology 2019
Assuntos:
Patient-Oriented and Epidemiological Research
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6889718/
https://ncbi.nlm.nih.gov/pubmed/31586016
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1194/jlr.M093971
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