Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Katherine Friedmann"'
Publikováno v:
Pediatric Neurology. 144:99-103
Autor:
Danielle Rodriguez, Donald M. Bushnell, Nicole Y. Farhat, Elizabeth Berry-Kravis, Laurie Bailey, Forbes D. Porter, Katherine Friedmann
Publikováno v:
Pediatr Neurol
Background Niemann-Pick Disease, type C1 (NPC1) is a rare neurodegenerative genetic disorder characterized by impaired intracellular transport of cholesterol and other lipids. The Niemann-Pick Disease, type C1 Severity Scale (NPC-SS) was developed to
Autor:
Joan A. O’Keefe, Katherine Friedmann, Robin Stoner, Amy Winston, Daniel S. Ory, Mariana Hernandez, Forbes D. Porter, Elizabeth Berry-Kravis, Jamie Chin, Anne Hoffmann, Lisa A LaGorio
Background Intrathecal 2-hydoxypropyl-β-cyclodextrin has been found to mobilize cholesterol, extend life, reduce cerebellar pathology, and delay onset of ataxia in the mouse and cat models of Niemann-Pick disease, type C1, a clinically variable prog
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49aeea858d37f277d261de722297c358
https://europepmc.org/articles/PMC5857219/
https://europepmc.org/articles/PMC5857219/
Autor:
Tori L. Schaefer, Katherine Friedmann, Sarah E. Fitzpatrick, Craig A. Erickson, Matthew H. Davenport
Publikováno v:
Drugs. 76(4)
To date, no drug is approved for the treatment of Fragile X Syndrome (FXS) although many drugs are used to manage challenging behaviors from a symptomatic perspective in this population. While our understanding of FXS pathophysiology is expanding, ef
Autor:
Katherine Friedmann, Ernest V. Pedapati, Tori L. Schaefer, Anne M O'Melia, Logan K. Wink, Rebecca C. Shaffer, Craig A. Erickson
Publikováno v:
The Journal of clinical psychiatry. 75(8)