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Journal Abstract Search


173 related items for PubMed ID: 31586016

  • 21. Metabolic Alteration Analysis of Steroid Hormones in Niemann-Pick Disease Type C Model Cell Using Liquid Chromatography/Tandem Mass Spectrometry.
    Abe A, Maekawa M, Sato T, Sato Y, Kumondai M, Takahashi H, Kikuchi M, Higaki K, Ogura J, Mano N.
    Int J Mol Sci; 2022 Apr 18; 23(8):. PubMed ID: 35457276
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  • 22. Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease.
    Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Vite CH, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Bodamer O, Wang RY, Plummer E, Schaffer JE, Ory DS, Jiang X.
    Mol Genet Metab; 2020 Apr 18; 129(4):292-302. PubMed ID: 32033912
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  • 25. Elevation of plasma lysosphingomyelin-509 and urinary bile acid metabolite in Niemann-Pick disease type C-affected individuals.
    Mashima R, Maekawa M, Narita A, Okuyama T, Mano N.
    Mol Genet Metab Rep; 2018 Jun 18; 15():90-95. PubMed ID: 30023294
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  • 26. Niemann-Pick type C disease as proof-of-concept for intelligent biomarker panel selection in neurometabolic disorders.
    Papandreou A, Doykov I, Spiewak J, Komarov N, Habermann S, Kurian MA, Mills PB, Mills K, Gissen P, Heywood WE, Clinical cohort recruitment and characterization group.
    Dev Med Child Neurol; 2022 Dec 18; 64(12):1539-1546. PubMed ID: 35833379
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  • 29. Identification of mutation in NPC2 by exome sequencing results in diagnosis of Niemann-Pick disease type C.
    Alavi A, Nafissi S, Shamshiri H, Nejad MM, Elahi E.
    Mol Genet Metab; 2013 Dec 18; 110(1-2):139-44. PubMed ID: 23791309
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  • 32. Patient With Niemann-Pick Type C Presenting With a Jaw Mass Characterized With Lymph Node Involvement by Niemann-Pick Cells.
    İnci A, Okur İ, Esendağli G, Okur A, Olgaç A, Ezgü FS, Tümer L.
    J Pediatr Hematol Oncol; 2018 Apr 18; 40(3):243-245. PubMed ID: 28692552
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  • 33. Evolution of structural neuroimaging biomarkers in a series of adult patients with Niemann-Pick type C under treatment.
    Masingue M, Adanyeguh I, Nadjar Y, Sedel F, Galanaud D, Mochel F.
    Orphanet J Rare Dis; 2017 Feb 02; 12(1):22. PubMed ID: 28148276
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  • 39. Diagnosis of niemann-pick C1 by measurement of bile acid biomarkers in archived newborn dried blood spots.
    Jiang X, Sidhu R, Orsini JJ, Farhat NY, Porter FD, Berry-Kravis E, Schaffer JE, Ory DS.
    Mol Genet Metab; 2019 Feb 02; 126(2):183-187. PubMed ID: 30172462
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