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Development of a bile acid-based newborn screen for Niemann-Pick disease type C.
Jiang X, Sidhu R, Mydock-McGrane L, Hsu FF, Covey DF, Scherrer DE, Earley B, Gale SE, Farhat NY, Porter FD, Dietzen DJ, Orsini JJ, Berry-Kravis E, Zhang X, Reunert J, Marquardt T, Runz H, Giugliani R, Schaffer JE, Ory DS. Jiang X, et al. Among authors: giugliani r. Sci Transl Med. 2016 May 4;8(337):337ra63. doi: 10.1126/scitranslmed.aaf2326. Sci Transl Med. 2016. PMID: 27147587 Free PMC article.
Cause of death in patients with chronic visceral and chronic neurovisceral acid sphingomyelinase deficiency (Niemann-Pick disease type B and B variant): Literature review and report of new cases.
Cassiman D, Packman S, Bembi B, Turkia HB, Al-Sayed M, Schiff M, Imrie J, Mabe P, Takahashi T, Mengel KE, Giugliani R, Cox GF. Cassiman D, et al. Among authors: giugliani r. Mol Genet Metab. 2016 Jul;118(3):206-213. doi: 10.1016/j.ymgme.2016.05.001. Epub 2016 May 11. Mol Genet Metab. 2016. PMID: 27198631 Free article. Review.
Molecular and biochemical biomarkers for diagnosis and therapy monitorization of Niemann-Pick type C patients.
Hammerschmidt TG, de Oliveira Schmitt Ribas G, Saraiva-Pereira ML, Bonatto MP, Kessler RG, Souza FTS, Trapp F, Michelin-Tirelli K, Burin MG, Giugliani R, Vargas CR. Hammerschmidt TG, et al. Among authors: giugliani r. Int J Dev Neurosci. 2018 May;66:18-23. doi: 10.1016/j.ijdevneu.2017.11.007. Epub 2017 Nov 29. Int J Dev Neurosci. 2018. PMID: 29197565
Nanoparticles containing β-cyclodextrin potentially useful for the treatment of Niemann-Pick C.
Donida B, Raabe M, Tauffner B, de Farias MA, Machado AZ, Timm F, Kessler RG, Hammerschmidt TG, Reinhardt LS, Brito VB, Portugal RV, Bernardi A, Frozza R, Moura DJ, Giugliani R, Poletto F, Vargas CR. Donida B, et al. Among authors: giugliani r. J Inherit Metab Dis. 2020 May;43(3):586-601. doi: 10.1002/jimd.12210. Epub 2020 Jan 13. J Inherit Metab Dis. 2020. PMID: 31943253
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. Sidhu R, et al. Among authors: giugliani r. Mol Genet Metab. 2020 Apr;129(4):292-302. doi: 10.1016/j.ymgme.2020.01.007. Epub 2020 Jan 22. Mol Genet Metab. 2020. PMID: 32033912 Free PMC article.
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1.
Sidhu R, Kell P, Dietzen DJ, Farhat NY, Do AND, Porter FD, Berry-Kravis E, Reunert J, Marquardt T, Giugliani R, Lourenço CM, Wang RY, Movsesyan N, Plummer E, Schaffer JE, Ory DS, Jiang X. Sidhu R, et al. Among authors: giugliani r. Mol Genet Metab. 2020 Dec;131(4):405-417. doi: 10.1016/j.ymgme.2020.11.005. Epub 2020 Nov 18. Mol Genet Metab. 2020. PMID: 33257258 Free PMC article.
Molecular profile and peripheral markers of neurodegeneration in patients with Niemann-Pick type C: Decrease in Plasminogen Activator Inhibitor type 1 and Platelet-Derived Growth Factor type AA.
Hammerschmidt TG, Encarnação M, Lamberty Faverzani J, de Fátima Lopes F, Poswar de Oliveira F, Fischinger Moura de Sousa C, Ribeiro I, Alves S, Giugliani R, Regla Vargas C. Hammerschmidt TG, et al. Among authors: giugliani r. Arch Biochem Biophys. 2023 Feb;735:109510. doi: 10.1016/j.abb.2023.109510. Epub 2023 Jan 4. Arch Biochem Biophys. 2023. PMID: 36608914
574 results