Zobrazeno 1 - 10
of 10 852
pro vyhledávání: '"Pick C."'
Autor:
Wanes, Dalanda1 (AUTHOR) wanes.dalanda@gmail.com, Al Aoua, Sherin1 (AUTHOR) alaoua.sherin@mh-hannover.de, Shammas, Hadeel1,2 (AUTHOR) das.anibh@mh-hannover.de, Walters, Friederike1 (AUTHOR) friederike.walters@tiho-hannover.de, Das, Anibh M.2 (AUTHOR), Rizk, Sandra3 (AUTHOR) sandra.rizk@lau.edu.lb, Naim, Hassan Y.1 (AUTHOR) hassan.naim@tiho-hannover.de
Publikováno v:
International Journal of Molecular Sciences. Nov2024, Vol. 25 Issue 21, p11361. 15p.
Akademický článek
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Autor:
Xuntian Jiang, Daniel S. Ory
Publikováno v:
Exploration of Neuroprotective Therapy, Vol 1, Iss 3, Pp 146-158 (2021)
Niemann-Pick C disease is a rare neurodegenerative, lysosomal storage disease caused by accumulation of unesterified cholesterol. Diagnosis of the disease is often delayed due to its rarity, the heterogeneous presentation, and the early non-specific
Externí odkaz:
https://doaj.org/article/c5bbd64c502648eca4920fff1991dc77
Autor:
Terada C; Laboratorio de Cultivo Celular, Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Mirarchi F; Laboratorio de Cultivo Celular, Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Marino R; Laboratorio de Biología Molecular Diagnóstico, Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Eiroa H; Servicio de Errores Congénitos del Metabolismo, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina., Berensztein E; Laboratorio de Cultivo Celular, Servicio de Endocrinología, Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Buenos Aires, Argentina. E-mail: esperanza.berensztein@gmail.com.; Segunda Unidad Académica, Departamento de Biología Celular, Histología, Embriología y Genética, Facultad de Medicina, Universidad de Buenos Aires, Argentina.
Publikováno v:
Medicina [Medicina (B Aires)] 2022; Vol. 82 (2), pp. 308-312.
Autor:
Malathi, Krishnamurthy, Higaki, Katsumi, Tinkelenberg, Arthur H., Balderes, Dina A., Almanzar-Paramio, Dorca, Wilcox, Lisa J., Erdeniz, Naz, Redican, Francis, Padamsee, Mahajabeen, Liu, Ying, Khan, Sohail, Alcantara, Frederick, Carstea, Eugene D., Morris, Jill A., Sturley, Stephen L.
Publikováno v:
The Journal of Cell Biology, 2004 Feb . 164(4), 547-556.
Externí odkaz:
https://www.jstor.org/stable/1622059
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 2003 Sep 01. 100(18), 10423-10428.
Externí odkaz:
https://www.jstor.org/stable/3147732
Autor:
Naureckiene, Saule, Lackland, Henry, Fensom, Anthony, Vanier, Marie T., Wattiaux, Robert, Jadot, Michel, Lobel, Peter
Publikováno v:
Science, 2000 Dec . 290(5500), 2298-2301.
Externí odkaz:
https://www.jstor.org/stable/3081713
Autor:
Loftus, Stacie K., Morris, Jill A., Carstea, Eugene D., Gu, Jessie Z., Cummings, Christiano, Brown, Anthony, Ellison, Jane, Ohno, Kousaku, Rosenfeld, Melissa A., Tagle, Danilo A., Pentchev, Peter G., Pavan, William J.
Publikováno v:
Science, 1997 Jul 01. 277(5323), 232-235.
Externí odkaz:
https://www.jstor.org/stable/2893573
Autor:
Gu, Jessie Z., Carstea, Eugene D., Cummings, Christiano, Morris, Jill A., Loftus, Stacie K., Zhang, Dana, Coleman, Katherine G., Cooney, Adele M., Comly, Marcy E., Fandino, Laura, Roff, Calvin, Tagle, Danilo A., Pavan, William J., Pentchev, Peter G., Rosenfeld, Melissa A.
Publikováno v:
Proceedings of the National Academy of Sciences of the United States of America, 1997 Jul 01. 94(14), 7378-7383.
Externí odkaz:
https://www.jstor.org/stable/42686
Autor:
Liu, Elaine A.1,2,3 (AUTHOR), Mori, Erika4 (AUTHOR), Hamasaki, Fuko4 (AUTHOR), Lieberman, Andrew P.1 (AUTHOR) liebermn@umich.edu
Publikováno v:
Neuropathology & Applied Neurobiology. Dec2021, Vol. 47 Issue 7, p1019-1032. 14p.