Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C.

Autor: Jenny Shin, Katrina Epperson, Nicole M Yanjanin, Jennifer Albus, Laura Borgenheimer, Natalie Bott, Erin Brennan, Daniel Castellanos, Melissa Cheng, Michael Clark, Margaret Devany, Courtney Ensslin, Nina Farivari, Shanik Fernando, Lauren Gabriel, Rani Gallardo, Moriah Castleman, Olimpia Gutierrez, Allison Herschel, Sarah Hodge, Anne Horst, Mary Howard, Evan James, Lindsey Jones, Mary Kearns, Mary Kelly, Christine Kim, Kinzie Kiser, Gregory Klazura, Chris Knoedler, Emily Kolbus, Lauren Lange, Joan Lee, Eileena Li, Wei Lu, Andrew Luttrell, Emily Ly, Katherine McKeough, Brianna McSorley, Catherine Miller, Sean Mitchell, Abbey Moon, Kevin Moser, Shane O'Brien, Paula Olivieri, Aaron Patzwahl, Marie Pereira, Craig Pymento, Erin Ramelb, Bryce Ramos, Teresa Raya, Stephen Riney, Geoff Roberts, Mark Robertshaw, Frannie Rudolf, Samuel Rund, Stephanie Sansone, Lindsay Schwartz, Ryan Shay, Edwin Siu, Timothy Spear, Catherine Tan, Marisa Truong, Mairaj Uddin, Jennifer Vantrieste, Omar Veloz, Elizabeth White, Forbes D Porter, Kasturi Haldar

Publikováno v: PLoS ONE, Vol 6, Iss 10, p e23666 (2011)

Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical out

Externí odkaz: https://doaj.org/article/94dab0bf9cb840f1a8c792684d8a6aca

Defining natural history: assessment of the ability of college students to aid in characterizing clinical progression of Niemann-Pick disease, type C

Autor: Evan James, Lindsey Jones, Margaret Devany, Kinzie Kiser, Joan Lee, Christine Kim, Laura Borgenheimer, Nicole M. Yanjanin, Mary Kearns, Brianna McSorley, Emily Kolbus, Bryce Ramos, Jenny Shin, Gregory Klazura, Abbey Moon, Catherine Tan, Omar Veloz, Anne Horst, Erin Brennan, Stephanie M. Sansone, Rani Gallardo, Olimpia Gutierrez, Catherine M. Miller, Teresa Raya, Timothy Spear, Mary Howard, Andrew Luttrell, Katherine McKeough, Chris Knoedler, Edwin Siu, Frannie Rudolf, Michael Clark, Shane O'Brien, Aaron Patzwahl, Lindsay Schwartz, Paula Olivieri, Allison Herschel, Stephen Riney, Kevin Moser, Emily Ly, Marie Pereira, Lauren Gabriel, Mary Kelly, Melissa Cheng, Kasturi Haldar, Mairaj Uddin, Elizabeth White, Courtney Ensslin, Daniel Castellanos, Craig Pymento, Nina Farivari, Lauren Lange, Jennifer VanTrieste, Moriah Castleman, Sean M. Mitchell, Ryan Shay, Jennifer Albus, Sarah Hodge, Katrina Epperson, Forbes D. Porter, Shanik Fernando, Samuel S. C. Rund, Eileena Li, Wei Lu, Erin Ramelb, Geoff Roberts, Marisa Truong, Natalie Bott, Mark Robertshaw

Publikováno v: PLoS ONE, Vol 6, Iss 10, p e23666 (2011)
PLoS ONE

Niemann-Pick Disease, type C (NPC) is a fatal, neurodegenerative, lysosomal storage disorder. It is a rare disease with broad phenotypic spectrum and variable age of onset. These issues make it difficult to develop a universally accepted clinical out

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8636c8892cecb5f8d5a48698b55bffb5
http://europepmc.org/articles/PMC3184943?pdf=render