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Journal Abstract Search
372 related items for PubMed ID: 28749998
1. LC-MS/MS multiplex analysis of lysosphingolipids in plasma and amniotic fluid: A novel tool for the screening of sphingolipidoses and Niemann-Pick type C disease. Pettazzoni M, Froissart R, Pagan C, Vanier MT, Ruet S, Latour P, Guffon N, Fouilhoux A, Germain DP, Levade T, Vianey-Saban C, Piraud M, Cheillan D. PLoS One; 2017; 12(7):e0181700. PubMed ID: 28749998 [Abstract] [Full Text] [Related]
2. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. Polo G, Burlina AP, Ranieri E, Colucci F, Rubert L, Pascarella A, Duro G, Tummolo A, Padoan A, Plebani M, Burlina AB. Clin Chem Lab Med; 2019 Nov 26; 57(12):1863-1874. PubMed ID: 31091195 [Abstract] [Full Text] [Related]
3. Rapid screening for lipid storage disorders using biochemical markers. Expert center data and review of the literature. Voorink-Moret M, Goorden SMI, van Kuilenburg ABP, Wijburg FA, Ghauharali-van der Vlugt JMM, Beers-Stet FS, Zoetekouw A, Kulik W, Hollak CEM, Vaz FM. Mol Genet Metab; 2018 Feb 26; 123(2):76-84. PubMed ID: 29290526 [Abstract] [Full Text] [Related]
4. Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB. Clin Chem Lab Med; 2017 Mar 01; 55(3):403-414. PubMed ID: 27533120 [Abstract] [Full Text] [Related]
5. The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency. Deodato F, Boenzi S, Taurisano R, Semeraro M, Sacchetti E, Carrozzo R, Dionisi-Vici C. Clin Chim Acta; 2018 Nov 01; 486():387-394. PubMed ID: 30153451 [Abstract] [Full Text] [Related]
6. Quantitation of plasmatic lysosphingomyelin and lysosphingomyelin-509 for differential screening of Niemann-Pick A/B and C diseases. Kuchar L, Sikora J, Gulinello ME, Poupetova H, Lugowska A, Malinova V, Jahnova H, Asfaw B, Ledvinova J. Anal Biochem; 2017 May 15; 525():73-77. PubMed ID: 28259515 [Abstract] [Full Text] [Related]
7. Plasma neurofilament light, glial fibrillary acidic protein and lysosphingolipid biomarkers for pharmacodynamics and disease monitoring of GM2 and GM1 gangliosidoses patients. Welford RWD, Farine H, Steiner M, Garzotti M, Dobrenis K, Sievers C, Strasser DS, Amraoui Y, Groenen PMA, Giugliani R, Mengel E. Mol Genet Metab Rep; 2022 Mar 15; 30():100843. PubMed ID: 35242574 [Abstract] [Full Text] [Related]
16. LC/ESI-MS/MS analysis of urinary 3β-sulfooxy-7β-N-acetylglucosaminyl-5-cholen-24-oic acid and its amides: new biomarkers for the detection of Niemann-Pick type C disease. Maekawa M, Misawa Y, Sotoura A, Yamaguchi H, Togawa M, Ohno K, Nittono H, Kakiyama G, Iida T, Hofmann AF, Goto J, Shimada M, Mano N. Steroids; 2013 Oct 15; 78(10):967-72. PubMed ID: 23751200 [Abstract] [Full Text] [Related]
17. High level of oxysterols in neonatal cholestasis: a pitfall in analysis of biochemical markers for Niemann-Pick type C disease. Polo G, Burlina A, Furlan F, Kolamunnage T, Cananzi M, Giordano L, Zaninotto M, Plebani M, Burlina A. Clin Chem Lab Med; 2016 Jul 01; 54(7):1221-9. PubMed ID: 26650075 [Abstract] [Full Text] [Related]
19. LC-MS/MS based assay and reference intervals in children and adolescents for oxysterols elevated in Niemann-Pick diseases. Klinke G, Rohrbach M, Giugliani R, Burda P, Baumgartner MR, Tran C, Gautschi M, Mathis D, Hersberger M. Clin Biochem; 2015 Jun 01; 48(9):596-602. PubMed ID: 25819840 [Abstract] [Full Text] [Related]