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American Journal of Medical Genetics. Part A|October 2, 2012
Apolipoprotein E genotype and neurological disease onset in Niemann-Pick disease, type C1Rao Fu, Nicole M Yanjanin, Matthew J Elrick, et al.American Journal of Medical Genetics. Part A|December 12, 2017
Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndromeAn N Dang Do, Eva H Baker, Katherine E Warren, et al.Journal of Child Neurology|March 2, 2012
Niemann-pick disease type C: implications for sedation and anesthesia for diagnostic proceduresNing Miao, Xiaowei Lu, Naomi P O'Grady, et al.Bone Research|January 15, 2020
Disruption of Dhcr7 and Insig1/2 in cholesterol metabolism causes defects in bone formation and homeostasis through primary cilium formationAkiko Suzuki, Kenichi Ogata, Hiroki Yoshioka, et al.The Cochrane Database of Systematic Reviews|March 6, 2020
Statins for Smith-Lemli-Opitz syndromeRami A Ballout, Simona Bianconi, Alicia Livinski, et al.Pediatric Neurology|July 18, 2013
Corpus callosum measurements correlate with developmental delay in Smith-Lemli-Opitz syndromeRyan W Y Lee, Shoko Yoshida, Eun Sol Jung, et al.American Journal of Medical Genetics. Part A|June 17, 2021
Hepatocellular carcinoma as a complication of Niemann-Pick disease type C1Jorge L Rodriguez-Gil, Simona E Bianconi, Nicole Farhat, et al.Annual Review of Genomics and Human Genetics|September 4, 2014
Disorders of cholesterol metabolism and their unanticipated convergent mechanisms of diseaseFrances M Platt, Christopher Wassif, Alexandria Colaco, et al.Pediatric Neurology|December 24, 2021
Consistently High Agreement Between Independent Raters of Niemann-Pick Type C1 Clinical Severity Scale in Phase 2/3 TrialNicole Farhat, Laurie Bailey, Katherine Friedmann, et al.JAMA Neurology|September 8, 2020
Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1Beth I Solomon, Andrew C Smith, Ninet Sinaii, et al.Pageof 20