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Plos One|April 18, 2017
Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1Alfred L Yergey, Paul S Blank, Stephanie M Cologna, et al.
Plos One|February 2, 2018
Correction: Characterization of hydroxypropyl-beta-cyclodextrins used in the treatment of Niemann-Pick Disease type C1Alfred L Yergey, Paul S Blank, Stephanie M Cologna, et al.
Molecular Genetics and Metabolism|November 1, 2019
Maternal immune activation modifies the course of Niemann-pick disease, type C1 in a gender specific mannerAntony Cougnoux, Mason Fellmeth, Tansy Gu, et al.
Ear and Hearing|November 15, 2013
Auditory phenotype of Niemann-Pick disease, type C1Kelly A King, Sandra Gordon-Salant, Nicole Yanjanin, et al.
Molecular Genetics and Metabolism|September 8, 2024
Elevated cerebrospinal fluid glial fibrillary acidic protein levels in Smith-Lemli-Opitz syndromeRachel A Luke, Niamh X Cawley, Samar Rahhal, et al.
American Journal of Medical Genetics. Part A|May 23, 2012
Growth charts for individuals with Smith-Lemli-Opitz syndromeRyan W Y Lee, John McGready, Sandra K Conley, et al.
JIMD Reports|February 23, 2013
Miglustat treatment may reduce cerebrospinal fluid levels of the axonal degeneration marker tau in niemann-pick type CNiklas Mattsson, Henrik Zetterberg, Simona Bianconi, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 4, 2017
Trifunctional lipid probes for comprehensive studies of single lipid species in living cellsDoris Höglinger, André Nadler, Per Haberkant, et al.
Plos One|January 31, 2020
Abnormal LAMP1 glycosylation may play a role in Niemann-Pick disease, type C pathologyNiamh X Cawley, Caitlin Sojka, Antony Cougnoux, et al.
Molecular Genetics and Metabolism Reports|March 19, 2026
Modulation of glutamate metabolism in Niemann-pick disease type C1 miceAntony Cougnoux, Carolina S Alvarez, Andrea Gutierrez Maria, et al.
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