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The Journal of Experimental Medicine|April 19, 2006
Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsivenessMartina Kovarova, Christopher A Wassif, Sandra Odom, et al.
International Journal of Molecular Sciences|April 5, 2020
Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann-Pick Disease, Type C1Niamh X Cawley, Anna T Lyons, Daniel Abebe, et al.
American Journal of Medical Genetics. Part A|August 13, 2005
Recognition of Smith-Lemli-Opitz syndrome (RSH) in the fetus: utility of ultrasonography and biochemical analysis in pregnancies with low maternal serum estriolMarwan Shinawi, Sara Szabo, Edwina Popek, et al.
Steroids|August 24, 2007
Cholesterol biosynthesis from birth to adulthood in a mouse model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz syndrome)Josep Marcos, Cedric H L Shackleton, Madhavee M Buddhikot, et al.
American Journal of Medical Genetics. Part A|August 7, 2013
Brain magnetic resonance imaging findings in Smith-Lemli-Opitz syndromeRyan W Y Lee, Sandra K Conley, Andrea Gropman, et al.
Molecules (Basel, Switzerland)|March 16, 2019
Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse ModelMelissa R Pergande, Antony Cougnoux, Rathnayake A C Rathnayake, et al.
Molecular & Cellular Proteomics : MCP|March 23, 2010
Quantitative proteomics analysis of inborn errors of cholesterol synthesis: identification of altered metabolic pathways in DHCR7 and SC5D deficiencyXiao-Sheng Jiang, Peter S Backlund, Christopher A Wassif, et al.
CNS Drugs|June 13, 2019
Long-Term Neuropsychological Outcomes from an Open-Label Phase I/IIa Trial of 2-Hydroxypropyl-β-Cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1Cristan A Farmer, Audrey Thurm, Nicole Farhat, et al.
Molecular Genetics and Metabolism|June 8, 2002
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblastsChristopher A Wassif, Donna Vied, Maria Tsokos, et al.
The Journal of Steroid Biochemistry and Molecular Biology|August 31, 2010
Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transferXavier Matabosch, Lee Ying, Montserrat Serra, et al.
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