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Disease Models & Mechanisms|January 31, 2020
Genetic background modifies phenotypic severity and longevity in a mouse model of Niemann-Pick disease type C1Jorge L Rodriguez-Gil, Dawn E Watkins-Chow, Laura L Baxter, et al.
Molecular Genetics and Metabolism|December 1, 2020
Application of a glycinated bile acid biomarker for diagnosis and assessment of response to treatment in Niemann-pick disease type C1Rohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Journal of Inherited Metabolic Disease|March 10, 2025
Elevated Cerebrospinal Fluid Total Tau in Niemann-Pick Disease Type C1: Correlation With Clinical Severity and Response to Therapeutic InterventionsNiamh X Cawley, Ruyu Zhou, Nicole M Farhat, et al.
Molecular Genetics and Metabolism|February 9, 2020
Application of N-palmitoyl-O-phosphocholineserine for diagnosis and assessment of response to treatment in Niemann-Pick type C diseaseRohini Sidhu, Pamela Kell, Dennis J Dietzen, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 29, 2021
X-linked creatine transporter deficiency results in prolonged QTc and increased sudden death risk in humans and disease modelMark D Levin, Simona Bianconi, Andrew Smith, et al.
The Journal of Biological Chemistry|October 5, 2012
δ-Tocopherol reduces lipid accumulation in Niemann-Pick type C1 and Wolman cholesterol storage disordersMiao Xu, Ke Liu, Manju Swaroop, et al.
Plos One|March 29, 2016
Defective Cytochrome P450-Catalysed Drug Metabolism in Niemann-Pick Type C DiseaseElena-Raluca Nicoli, Nada Al Eisa, Celine V M Cluzeau, et al.
Science Translational Medicine|May 6, 2016
Development of a bile acid-based newborn screen for Niemann-Pick disease type CXuntian Jiang, Rohini Sidhu, Laurel Mydock-McGrane, et al.
Journal of Inherited Metabolic Disease|January 31, 2023
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylationAn N Dang Do, Irene J Chang, Xutian Jiang, et al.
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