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Author/Creator Bianconi, Simona

2. Development, behavior, and biomarker characterization of Smith-Lemli-Opitz syndrome: an update. Issue 1 (December 2016)

Authors:
Thurm, Audrey; Tierney, Elaine; Farmer, Cristan; Albert, Phebe; Joseph, Lisa; Swedo, Susan; Bianconi, Simona; Bukelis, Irena; Wheeler, Courtney; Sarphare, Geeta; Lanham, Diane; Wassif, Christopher; Porter, Forbes
Journal:
Journal of neurodevelopmental disorders
Issue:
Volume 8:Issue 1(2016)
Page Start:
1
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

3. Intrathecal 2-hydroxypropyl-β-cyclodextrin decreases neurological disease progression in Niemann-Pick disease, type C1: a non-randomised, open-label, phase 1–2 trial. Issue 10104 (14th October 2017)

Authors:
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,...
Journal:
Lancet
Issue:
Volume 390:Issue 10104(2017)
Page Start:
1758
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗

4. Neurodevelopmental Characterization of Young Children Diagnosed with Niemann-Pick Disease, Type C1. Issue 5 (June 2020)

Authors:
Thurm, Audrey; Chlebowski, Colby; Joseph, Lisa; Farmer, Cristan; Adedipe, Dee; Weiss, Madison; Wiggs, Edythe; Farhat, Nicole; Bianconi, Simona; Berry-Kravis, Elizabeth; Porter, Forbes D.
Journal:
Journal of developmental and behavioral pediatrics
Issue:
Volume 41:Issue 5(2020)
Page Start:
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗