Matches in Nanopublications for { ?s ?p "[He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ?g. }
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- NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_assertion description "[He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1213016.RA_a3OyUiFDSEfn779oQOgfQ8_JeP4D4YnPXCt4qQ65zU130_provenance.
- NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_assertion description "[He required many other diagnostic investigations for neurodegenerative disorders, but was eventually confirmed as having Niemann-Pick disease type C with excessive free cholesterol using filipin staining and zero activity for cholesterol esterification in fibroblast as well as two pathogenic mutations in the NPC1 gene.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP1213017.RA7bAm7PfvoUbU2dfETigCeq5Jk7W-l9ZRoSl1bELl7Ho130_provenance.