Malformation syndromes due to inborn errors of cholesterol synthesis

od Porter, Forbes D.
Izdano 2002

Cholesterol precursors and facial clefting

od Porter, Forbes D.
Izdano 2006

Malformation syndromes caused by disorders of cholesterol synthesis

od Porter, Forbes D., Herman, Gail E.
Izdano 2011

Analysis of Short-term Behavioral Effects of Dietary Cholesterol Supplementation in Smith-Lemli-Opitz Syndrome

od Tierney, Elaine, Conley, Sandra K., Goodwin, Halima, Porter, Forbes D.
Izdano 2010

Discordant Clinical Phenotype and Sterol Biochemistry in Smith-Lemli-Opitz Syndrome

od Koo, Grace, Conley, Sandra K., Wassif, Christopher A., Porter, Forbes D.
Izdano 2010

Pathogenesis, Epidemiology, Diagnosis and Clinical Aspects of Smith-Lemli-Opitz Syndrome

od Bianconi, Simona E., Cross, Joanna L., Wassif, Christopher A., Porter, Forbes D.
izdano v Expert Opin Orphan Drugs (2015)

Vitamin D Levels in Smith-Lemli-Opitz Syndrome

od Movassaghi, M., Bianconi, Simona, Feinn, Richard, Wassif, Christopher A., Porter, Forbes D.
izdano v Am J Med Genet A (2017)

Low incidence of postdural puncture headache further reduced with atraumatic spinal needle: a retrospective cohort study

od Farhat, Nicole Yanjanin, Farmer, Cristan, Dang Do, An, Bianconi, Simona, Porter, Forbes D.
izdano v Pediatr Neurol (2020)

Oxidative Stress in Niemann-Pick Disease, Type C

od Fu, Rao, Yanjanin, Nicole M., Bianconi, Simona, Pavan, William J., Porter, Forbes D.
Izdano 2010

Evaluation of the Potential Role of Proprotein Convertase Subtilisin/Kexin Type 9 (PCSK9) in Niemann–Pick Disease, Type C1

od Cawley, Niamh X., Lyons, Anna T., Abebe, Daniel, Wassif, Christopher A., Porter, Forbes D.
izdano v Int J Mol Sci (2020)

Cholesterol deficiency in a mouse model of Smith-Lemli-Opitz syndrome reveals increased mast cell responsiveness

od Kovarova, Martina, Wassif, Christopher A., Odom, Sandra, Liao, Katherine, Porter, Forbes D., Rivera, Juan
Izdano 2006

Quantitative Proteomics Analysis of Inborn Errors of Cholesterol Synthesis: IDENTIFICATION OF ALTERED METABOLIC PATHWAYS IN DHCR7 and SC5D DEFICIENCY

od Jiang, Xiao-Sheng, Backlund, Peter S., Wassif, Christopher A., Yergey, Alfred L., Porter, Forbes D.
Izdano 2010

Cohort study of neurocognitive functioning and adaptive behavior in children and adolescents with NPC1

od THURM, AUDREY, FARMER, CRISTAN, FARHAT, NICOLE YANJANIN, WIGGS, EDYTHE, BLACK, DAVID, PORTER, FORBES D
izdano v Dev Med Child Neurol (2015)

Cholesterol Biosynthesis from Birth to Adulthood in a Mouse Model for 7-dehydrosterol reductase deficiency (Smith-Lemli-Opitz Syndrome)

od Marcos, Josep, Shackleton, Cedric H.L., Buddhikot, Madhavee M., Porter, Forbes D., Watson, Gordon L.
Izdano 2007

Brain Magnetic Resonance Imaging Findings in Smith-Lemli-Opitz Syndrome

od Lee, Ryan W.Y., Conley, Sandra K., Gropman, Andrea, Porter, Forbes D., Baker, Eva H.
Izdano 2013

Spontaneously regressing brain lesions in Smith-Lemli-Opitz syndrome

od Dang Do, An N., Baker, Eva H., Warren, Katherine E., Bianconi, Simona E., Porter, Forbes D.
izdano v Am J Med Genet A (2017)

Differential Proteomics Reveals miR-155 as a Novel Indicator of Liver and Spleen Pathology in the Symptomatic Niemann-Pick Disease, Type C1 Mouse Model

od Pergande, Melissa R., Cougnoux, Antony, Rathnayake, Rathnayake A. C., Porter, Forbes D., Cologna, Stephanie M.
izdano v Molecules (2019)

Statins for Smith‐Lemli‐Opitz syndrome

od Ballout, Rami A, Bianconi, Simona, Livinski, Alicia, Fu, Yi‐Ping, Remaley, Alan T, Porter, Forbes D
izdano v Cochrane Database Syst Rev (2020)

Long-term neuropsychological outcomes from an open-label phase 1/2a trial of 2-hydoxypropyl-β-cyclodextrins (VTS-270) in Niemann-Pick Disease, Type C1

od Farmer, Cristan A., Thurm, Audrey, Farhat, Nicole, Bianconi, Simona, Keener, Lee Ann, Porter, Forbes D.
izdano v CNS Drugs (2019)

Increasing cholesterol synthesis in 7-dehydrosterol reductase (DHCR7) deficient mouse models through gene transfer

od Matabosch, Xavier, Ying, Lee, Serra, Montserrat, Wassif, Christopher A., Porter, Forbes D., Shackleton, Cedric, Watson, Gordon
Izdano 2010