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Expert Opinion on Orphan Drugs|March 4, 2015
Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz SyndromeSimona E Bianconi, Joanna L Cross, Christopher A Wassif, et al.American Journal of Medical Genetics. Part A|August 11, 2017
Vitamin D levels in Smith-Lemli-Opitz syndromeMiyad Movassaghi, Simona Bianconi, Richard Feinn, et al.Steroids|August 9, 2003
27-Hydroxylation of 7- and 8-dehydrocholesterol in Smith-Lemli-Opitz syndrome: a novel metabolic pathwayChristopher A Wassif, Jinghua Yu, Jisong Cui, et al.Steroids|January 13, 2004
The implications of 7-dehydrosterol-7-reductase deficiency (Smith-Lemli-Opitz syndrome) to neurosteroid productionJosep Marcos, Li-Wei Guo, William K Wilson, et al.Journal of Inherited Metabolic Disease|August 15, 2025
Biomarker Validation in NPC1: Foundations for Clinical Trials and Regulatory AlignmentKrista Casazza, Stephanie M Cologna, Elizabeth Berry-Kravis, et al.Pediatric Neurology|November 15, 2020
Low Incidence of Postdural Puncture Headache Further Reduced With Atraumatic Spinal Needle: A Retrospective Cohort StudyNicole Yanjanin Farhat, Cristan Farmer, An Dang Do, et al.Molecular Genetics and Metabolism|July 30, 2010
Oxidative stress in Niemann-Pick disease, type CRao Fu, Nicole M Yanjanin, Simona Bianconi, et al.The Journal of Steroid Biochemistry and Molecular Biology|December 13, 2002
Identification of 7(8) and 8(9) unsaturated adrenal steroid metabolites produced by patients with 7-dehydrosterol-delta7-reductase deficiency (Smith-Lemli-Opitz syndrome)Cedric Shackleton, Esther Roitman, Li Wei Guo, et al.Human Gene Therapy|February 27, 2025
Prevalence of Neutralizing Antibodies to AAV2 and AAV9 in Individuals with Niemann-Pick Disease, Type C1Avani V Mylvara, Cristin D Davidson, Derek Alexander, et al.Developmental Medicine and Child Neurology|November 21, 2015
Cohort study of neurocognitive functioning and adaptive behaviour in children and adolescents with Niemann-Pick Disease type C1Audrey Thurm, Cristan Farmer, Nicole Yanjanin Farhat, et al.Pageof 20