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N

Nicole Y. Farhat

Rush University Medical Center
H指数:18
被引数:1,236

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Utility of 24(S)-hydroxycholesterol as a proximal biomarker to monitor long-term intrathecal adrabetadex therapy in individuals with Niemann-Pick disease, type C1

24(S)-羟基胆固醇作为监测Niemann-Pick病C1型患者长期鞘内adrabetadex疗法的近端生物标志物的效用

Molecular Genetics and Metabolism
IF3.5
2025-10-060
PRE
Forbes D. Porter; Derek M. Alexander; Orsolya K. Albert; Kendall P. Robbins; Desiree A. Labor; Aiden J. Borruso; Nicole Y. Farhat; Xuntian Jiang; Elizabeth Berry-Kravis
Application of a glycinated bile acid biomarker fordiagnosisand assessment of response to treatment in Niemann-pick disease type C1
MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-12-0111
OAAI
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J.; Farhat, Nicole Y.; An Ngoc Dang Do; Porter, Forbes D.; Berry-Kravis, Elizabeth; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenco, Charles M.; Wang, Raymond Y.; Movsesyan, Nina; Plummer, Ellen; Schaffer, Jean E.; Ory, Daniel S.; Jiang, Xuntian
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C disease
MOLECULAR GENETICS AND METABOLISM
IF3.5
2020-04-0120
OAAI
Sidhu, Rohini; Kell, Pamela; Dietzen, Dennis J.; Farhat, Nicole Y.; An Ngoc Dang Do; Porter, Forbes D.; Berry-Kravis, Elizabeth; Vite, Charles H.; Reunert, Janine; Marquardt, Thorsten; Giugliani, Roberto; Lourenco, Charles M.; Bodamer, Olaf; Wang, Raymond Y.; Plummer, Ellen; Schaffer, Jean E.; Ory, Daniel S.; Jiang, Xuntian
Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1-2 trial
LANCET
IF88.5
2017-10-01257
OAAI
Ory, Daniel S.; Ottinger, Elizabeth A.; Farhat, Nicole Yanjanin; King, Kelly A.; Jiang, Xuntian; Weissfeld, Lisa; Berry-Kravis, Elizabeth; Davidson, Cristin D.; Bianconi, Simona; Keener, Lee Ann; Rao, Ravichandran; Soldatos, Ariane; Sidhu, Rohini; Walters, Kimberly A.; Xu, Xin; Thurm, Audrey; Solomon, Beth; Pavan, William J.; Machielse, Bernardus N.; Kao, Mark; Silber, Steven A.; Mckew, John C.; Brewer, Carmen C.; Vite, Charles H.; Walkley, Steven U.; Austin, Christopher P.; Porter, Forbes D.
Development of a bile acid-based newborn screen for Niemann-Pick disease type C
SCIENCE TRANSLATIONAL MEDICINE
IF14.6
2016-05-0491
OAAI
Jiang, Xuntian; Sidhu, Rohini; Mydock-McGrane, Laurel; Hsu, Fong-Fu; Covey, Douglas F.; Scherrer, David E.; Earley, Brian; Gale, Sarah E.; Farhat, Nicole Y.; Porter, Forbes D.; Dietzen, Dennis J.; Orsini, Joseph J.; Berry-Kravis, Elizabeth; Zhang, Xiaokui; Reunert, Janice; Marquardt, Thorsten; Runz, Heiko; Giugliani, Roberto; Schaffer, Jean E.; Ory, Daniel S.

研究方向

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F
Forbes D. Porter
H 指数:60论文数:288被引数:1.2万
E
Elizabeth Berry‐Kravis
H 指数:90论文数:553被引数:2.7万
X
Xuntian Jiang
H 指数:36论文数:129被引数:4,661
R
Rohini Sidhu
H 指数:31论文数:56被引数:4,116
D
Daniel S. Ory
H 指数:49论文数:203被引数:1.0万
S
Simona Bianconi
H 指数:17论文数:52被引数:1,612
A
An Dang
H 指数:14论文数:57被引数:750
J
Jean E. Schaffer
H 指数:60论文数:139被引数:1.5万
C
Charles H. Vite
H 指数:46论文数:160被引数:7,142
C
Christopher A. Wassif
H 指数:44论文数:123被引数:6,101