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

Por Bianconi, Simona E., Cross, Joanna L., Wassif, Christopher A., Porter, Forbes D.
Publicado no Expert Opin Orphan Drugs (2015)

Adrenal function in Smith-Lemli-Opitz Syndrome

Por Bianconi, Simona E, Conley, Sandra K, Keil, Meg F, Sinaii, Ninet, Rother, Kristina I, Porter, Forbes D, Stratakis, Constantine A
Publicado em 2011

Altered Cerebrospinal Fluid Proteins in Smith-Lemli-Opitz Syndrome Patients

Por Cologna, Stephanie M., Shieh, Christine, Toth, Cynthia L., Cougnoux, Antony, Burkert, Kathryn R., Bianconi, Simona E., Wassif, Christopher A., Porter, Forbes D.
Publicado no Am J Med Genet A (2016)

Linear Clinical Progression, Independent of Age of Onset, in Niemann-Pick Disease, type C

Por Yanjanin, Nicole M., Vélez, Jorge I., Gropman, Andrea, King, Kelly, Bianconi, Simona E., Conley, Sandra K., Brewer, Carmen C., Solomon, Beth, Pavan, William J., Arcos-Burgos, Mauricio, Patterson, Marc C., Porter, Forbes D.
Publicado em 2010