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)
Age-related decline in the microstructural integrity of white matter in children with early- and continuously-treated PKU: a DTI study of the corpus callosum.
Mol. Genet. Metab., 99 Suppl 1:S41-6 (2010)
ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis.
Clin. Chim. Acta., Jan;411(1-2):43-8 (2010)
The effects of sterol structure upon sterol esterification.
Atherosclerosis., Jan;208(1):155-60 (2010)
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition.
Genet. Med., Jun;11(6):375-85 (2009)
Smith-Lemli-Opitz syndrome and inborn errors of cholesterol synthesis: summary of the 2007 SLO/RSH Foundation scientific conference sponsored by the National Institutes of Health.
Genet. Med., May;11(5):359-64 (2009)
Commentary on: "Newborn screening for Krabbe Disease: the New York state model" and "the long-term outcomes of presymptomatic infants transplanted for Krabbe disease. A report of the workshop held on July 11 and 12, 2008, Holiday Valley, New York".
Genet. Med., Jun;11(6):411-3 (2009)
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome.
Pediatr. Res., Jun;65(6):681-5 (2009)
Response monitoring in children with phenylketonuria.
Neuropsychology., Jan;23(1):130-4 (2009)
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome.
J. Pediatr., Apr;154(4):557-561.e1 (2009)
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction.
Mol. Genet. Metab., Feb;96(2):S3-5 (2009)
Bisphosphonate therapy for osteogenesis imperfecta.
Cochrane Database Syst Rev., (4):CD005088 (2008)
Correlates of language impairment in children with galactosaemia.
J. Inherit. Metab. Dis., Aug;31(4):524-32 (2008)
Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol.
Anal. Biochem., Oct;381(1):151-3 (2008)
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome.
Mol. Genet. Metab., Jun;94(2):240-7 (2008)
Cellular therapy for childhood neurodegenerative disease. Part II: clinical trial design and implementation.
Neurosurg Focus., 24(3-4):E23 (2008)
Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies.
Neurosurg Focus., 24(3-4):E22 (2008)
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome.
J. Inherit. Metab. Dis., Nov;30(6):888-95 (2007)
Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force.
Pediatrics., Jul;120(1):e189-214 (2007)
Inhibitory control in children with phenylketonuria.
Dev Neuropsychol., 30(3):845-64 (2006)
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol.
J. Lipid Res., Dec;47(12):2789-98 (2006)
Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency.
Mil Med., Jul;171(7):657-8 (2006)
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome.
Am. J. Med. Genet. A., Jul;140(14):1511-8 (2006)
Pompe disease diagnosis and management guideline.
Genet. Med., May;8(5):267-88 (2006)
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping.
Hum. Genet., Feb;118(6):680-90 (2006)
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome.
J. Lipid Res., Jan;47(1):134-43 (2006)
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis?
Am. J. Med. Genet. A., Dec;139A(2):67-77 (2005)
Clinical profile of a male with Rett syndrome.
Brain Dev., Nov;27 Suppl 1:S69-S71 (2005)
DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome.
J. Med. Genet., Apr;42(4):350-7 (2005)
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome.
Pediatr. Res., Jun;57(6):765-70 (2005)
Evidence based medicine in inborn errors of metabolism: is there any and how to find it.
Am. J. Med. Genet. A., Apr;134A(2):192-7 (2005)
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers.
Am J Psychiatry., Nov;161(11):2123-6 (2004)
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome.
Mol. Genet. Metab., 83(1-2):175-83 (2004 Sep-Oct)
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study.
J Magn Reson Imaging., Oct;20(4):674-83 (2004)
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome.
Pediatr. Res., Nov;56(5):726-32 (2004)
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome.
J. Pediatr., Jun;144(6):783-91 (2004)
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA.
Am. J. Med. Genet. A., Jun;127A(2):158-66 (2004)
Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses.
J Perinat Neonatal Nurs., 18(1):41-58; quiz 59-60 (2004 Jan-Mar)
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors.
Genet. Med., 6(2):96-101 (2004 Mar-Apr)
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food.
Mol. Genet. Metab., 80(1-2):181-8 (2003 Sep-Oct)
Biochemical, phenotypic and neurophysiological characterization of a genetic mouse model of RSH/Smith--Lemli--Opitz syndrome.
Hum. Mol. Genet., Mar;10(6):555-64 (2001)
Carrier frequency of the common mutation IVS8-1G>C in DHCR7 and estimate of the expected incidence of Smith-Lemli-Opitz syndrome.
Mol. Genet. Metab., Jan;72(1):67-71 (2001)
Smith-Lemli-Opitz syndrome: the first malformation syndrome associated with defective cholesterol synthesis.
Mol. Genet. Metab., 71(1-2):154-62 (2000 Sep-Oct)
Mutation analysis and description of sixteen RSH/Smith-Lemli-Opitz syndrome patients: polymerase chain reaction-based assays to simplify genotyping.
Am. J. Med. Genet., Sep;94(3):214-27 (2000)
A simple PCR-based assay allows detection of a common mutation, IVS8-1G-->C, in DHCR7 in Smith-Lemli-Opitz syndrome.
Genet. Test., 3(4):361-3 (1999)
Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome.
Am. J. Med. Genet., Dec;80(5):501-5 (1998)
Mutations in the human sterol delta7-reductase gene at 11q12-13 cause Smith-Lemli-Opitz syndrome.
Am. J. Hum. Genet., Jul;63(1):55-62 (1998)
Bilateral radial ray hypoplasia with multiple epiphyseal dysplasia.
Am. J. Med. Genet., May;77(3):182-7 (1998)
Black children deficient in galactose 1-phosphate uridyltransferase: correlation of activity and immunoreactive protein in erythrocytes and leukocytes.
J. Pediatr., Jun;130(6):972-80 (1997)
Klippel-Trenaunay-Weber syndrome associated with a 5:11 balanced translocation.
Am. J. Med. Genet., Dec;59(4):492-4 (1995)
Hydrops fetalis: role of the geneticist.
Semin. Perinatol., Dec;19(6):516-24 (1995)
Corneal abnormalities in a mother and daughter with focal dermal hypoplasia (Goltz-Gorlin syndrome).
Am. J. Ophthalmol., Aug;120(2):256-8 (1995)
Asp187Asn mutation of gelsolin in an American kindred with familial amyloidosis, Finnish type (FAP IV).
Hum. Genet., Mar;95(3):327-30 (1995)
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death.
J. Clin. Invest., Oct;94(4):1477-83 (1994)
Annu. Rev. Med., 43:269-82 (1992)