Assays of Plasma Dehydrocholesterol Esters and Oxysterols from Smith-Lemli-Opitz Syndrome Patients.
J. Lipid Res., Oct (2012)
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
Am J Med Genet C Semin Med Genet., Nov;160C(4):285-94 (2012)
Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.
Hum. Mol. Genet., Oct (2012)
Processing speed and executive abilities in children with phenylketonuria.
Neuropsychology., Nov;26(6):735-43 (2012)
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome.
J. Inherit. Metab. Dis., Sep;35(5):859-69 (2012)
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP).
J. Inherit. Metab. Dis., Nov (2011)
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign.
Arch. Ophthalmol., Aug;129(8):1087-8 (2011)
Expert Rev Mol Med., 13:e24 (2011)
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients.
Neurology., Aug;77(6):522-3 (2011)
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome.
Mol. Genet. Metab., Nov;104(3):346-55 (2011)
Perinatal onset mevalonate kinase deficiency.
Pediatr. Dev. Pathol., 14(4):301-6 (2011 Jul-Aug)
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes.
Hum. Mol. Genet., Apr;20(8):1595-609 (2011)
Profiling sterols in cerebrotendinous xanthomatosis: utility of Girard derivatization and high resolution exact mass LC-ESI-MS(n) analysis.
J. Chromatogr. B Analyt. Technol. Biomed. Life Sci., May;879(17-18):1384-92 (2011)
Executive strategic processing during verbal fluency performance in children with phenylketonuria.
Child Neuropsychol., 17(2):105-17 (2011)
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
Am. J. Hum. Genet., Dec;87(6):905-14 (2010)
Alendronate for the treatment of pediatric osteogenesis imperfecta: a randomized placebo-controlled study.
J. Clin. Endocrinol. Metab., Feb;96(2):355-64 (2011)
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey.
Genet. Med., Dec;12(12):816-22 (2010)
In Memoriam: William E. Connor (1921-2009).
J. Lipid Res., Apr;51(4):679-81 (2010)
Screening for Lipid Disorders in Children and Adolescents., July (2007)