"Evaluation of miglustat as maintenance therapy after enzyme therapy in adults with stable type 1 Gaucher disease: A prospective, open-label non-inferiority study," Orphanet Journal of Rare Diseases (Vol: 7, Issue: 1, Page ) - 2012
"Alterations in membrane caveolae and BK Ca channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome," Molecular Genetics and Metabolism (Vol: 104, Issue: 3, Page 346-355) - 2011
""I'm fine; I'm just waiting for my disease": The new and growing class of presymptomatic patients," Neurology (Vol: 77, Issue: 6, Page 522-523) - 2011
"Cerebrotendinous xanthomatosis: A treatable disease with juvenile cataracts as a presenting sign," Archives of Ophthalmology (Vol: 129, Issue: 8, Page 1087-1088) - 2011
"Perinatal onset mevalonate kinase deficiency," Pediatric and Developmental Pathology (Vol: 14, Issue: 4, Page 301-306) - 2011
"Profiling sterols in cerebrotendinous xanthomatosis: Utility of Girard derivatization and high resolution exact mass LC-ESI-MSn analysis," Journal of Chromatography B: Analytical Technologies in the Biomedical and Life Sciences (Vol: 879, Issue: 17-18, Page 1384-1392) - 2011
"Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes," Human Molecular Genetics (Vol: 20, Issue: 8, Page 1595-1609) - 2011
"Executive strategic processing during verbal fluency performance in children with phenylketonuria," Child Neuropsychology (Vol: 17, Issue: 2, Page 105-117) - 2011
"Research challenges in central nervous system manifestations of inborn errors of metabolism," Molecular Genetics and Metabolism (Vol: 102, Issue: 3, Page 326-338) - 2011
"Alendronate for the treatment of pediatric osteogenesis imperfecta: A randomized placebo-controlled study," Journal of Clinical Endocrinology and Metabolism (Vol: 96, Issue: 2, Page 355-364) - 2011
"Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP)," Journal of Inherited Metabolic Disease (Vol: , Issue: , Page 1-12) - 2011
"Smith-Lemli-Opitz syndrome.," Expert reviews in molecular medicine (Vol: 13, Issue: , Page e24) - 2011
"Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome," American Journal of Human Genetics (Vol: 87, Issue: 6, Page 905-914) - 2010
"Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): Data from the Hunter Outcome Survey," Genetics in Medicine (Vol: 12, Issue: 12, Page 816-822) - 2010
"In Memoriam: William E. Connor (1921-2009).," Journal of lipid research (Vol: 51, Issue: 4, Page 679-681) - 2010
"Enzyme replacement therapy for mucopolysaccharidosis VI: Evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase," Journal of Inherited Metabolic Disease (Vol: 33, Issue: 1, Page 51-60) - 2010
"ESI-MS/MS quantification of 7α-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis," Clinica Chimica Acta (Vol: 411, Issue: 1-2, Page 43-48) - 2010
"Clinical utility of endurance measures for evaluation of treatment in patients with mucopolysaccharidosis VI (Maroteaux-Lamy syndrome)," Journal of Pediatric Rehabilitation Medicine (Vol: 3, Issue: 2, Page 119-127) - 2010
"Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase," Journal of Pediatric Rehabilitation Medicine (Vol: 3, Issue: 2, Page 89-100) - 2010
"The effects of sterol structure upon sterol esterification," Atherosclerosis (Vol: 208, Issue: 1, Page 155-160) - 2010
