Published in J Pediatr on December 01, 2002
The stillbirth collaborative research network postmortem examination protocol. Am J Perinatol (2011) 1.07
Fetal fatty acid oxidation disorders, their effect on maternal health and neonatal outcome: impact of expanded newborn screening on their diagnosis and management. Pediatr Res (2005) 1.06
Mitochondrial trifunctional protein defects: clinical implications and therapeutic approaches. Adv Drug Deliv Rev (2008) 0.88
A newborn with VLCAD deficiency. Clinical, biochemical, and histopathological findings. Eur J Pediatr (2007) 0.78
Pompe disease diagnosis and management guideline. Genet Med (2006) 3.03
Risedronate in children with osteogenesis imperfecta: a randomised, double-blind, placebo-controlled trial. Lancet (2013) 1.82
Effects of dietary cholesterol on plasma lipoproteins in Smith-Lemli-Opitz syndrome. Pediatr Res (2004) 1.57
Osteogenesis imperfecta: recent findings shed new light on this once well-understood condition. Genet Med (2009) 1.55
Genetic Counseling and Screening of Consanguineous Couples and Their Offspring: Recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 1.51
"I'm fine; I'm just waiting for my disease": the new and growing class of presymptomatic patients. Neurology (2011) 1.43
Missense mutations in CRELD1 are associated with cardiac atrioventricular septal defects. Am J Hum Genet (2003) 1.42
The near universal presence of autism spectrum disorders in children with Smith-Lemli-Opitz syndrome. Am J Med Genet A (2006) 1.37
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 (2012) 1.29
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2008) 1.29
Screening and treatment for lipid disorders in children and adolescents: systematic evidence review for the US Preventive Services Task Force. Pediatrics (2007) 1.25
Mutations in PPIB (cyclophilin B) delay type I procollagen chain association and result in perinatal lethal to moderate osteogenesis imperfecta phenotypes. Hum Mol Genet (2011) 1.23
Penetrance of biallelic SMARCAL1 mutations is associated with environmental and genetic disturbances of gene expression. Hum Mol Genet (2012) 1.18
Ascorbate decreases Fabry cerebral hyperperfusion suggesting a reactive oxygen species abnormality: an arterial spin tagging study. J Magn Reson Imaging (2004) 1.12
Cholesterol supplementation does not improve developmental progress in Smith-Lemli-Opitz syndrome. J Pediatr (2004) 1.12
Improved growth and nutrition status in children with methylmalonic or propionic acidemia fed an elemental medical food. Mol Genet Metab (2003) 1.08
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 J Rare Dis (2012) 1.06
A membrane defect in the pathogenesis of the Smith-Lemli-Opitz syndrome. J Lipid Res (2005) 1.06
Design, baseline characteristics, and early findings of the MPS VI (mucopolysaccharidosis VI) Clinical Surveillance Program (CSP). J Inherit Metab Dis (2011) 1.04
Age-related working memory impairments in children with prefrontal dysfunction associated with phenylketonuria. J Int Neuropsychol Soc (2002) 1.03
Skeletal changes in epidermal nevus syndrome: does focal bone disease harbor clues concerning pathogenesis? Am J Med Genet A (2005) 1.00
Importance of surgical history in diagnosing mucopolysaccharidosis type II (Hunter syndrome): data from the Hunter Outcome Survey. Genet Med (2010) 0.99
Central nervous system stem cell transplantation for children with neuronal ceroid lipofuscinosis. J Neurosurg Pediatr (2013) 0.98
Diagnosis of autoimmune pancreatitis vs neoplasms in children with pancreatic mass and biliary obstruction. Clin Gastroenterol Hepatol (2012) 0.98
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2014) 0.98
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 (2010) 0.98
Effects of dietary cholesterol and simvastatin on cholesterol synthesis in Smith-Lemli-Opitz syndrome. Pediatr Res (2009) 0.97
ESI-MS/MS quantification of 7alpha-hydroxy-4-cholesten-3-one facilitates rapid, convenient diagnostic testing for cerebrotendinous xanthomatosis. Clin Chim Acta (2009) 0.97
Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome. Am J Hum Genet (2010) 0.97
Inhibitory control in children with phenylketonuria. Dev Neuropsychol (2006) 0.95
Liquid chromatography-tandem mass spectrometry determination of plasma 24S-hydroxycholesterol with chromatographic separation of 25-hydroxycholesterol. Anal Biochem (2008) 0.95
Sterol metabolism disorders and neurodevelopment-an update. Dev Disabil Res Rev (2013) 0.93
Cerebrotendinous xanthomatosis: a treatable disease with juvenile cataracts as a presenting sign. Arch Ophthalmol (2011) 0.93
Cholesterol storage defect in RSH/Smith-Lemli-Opitz syndrome fibroblasts. Mol Genet Metab (2002) 0.93
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 (2010) 0.92
Short/branched-chain acyl-CoA dehydrogenase deficiency due to an IVS3+3A>G mutation that causes exon skipping. Hum Genet (2005) 0.92
A blood test for cerebrotendinous xanthomatosis with potential for disease detection in newborns. J Lipid Res (2013) 0.91
No evidence for mevalonate shunting in moderately affected children with Smith-Lemli-Opitz syndrome. J Inherit Metab Dis (2012) 0.91
Assays of plasma dehydrocholesteryl esters and oxysterols from Smith-Lemli-Opitz syndrome patients. J Lipid Res (2012) 0.91
Clinical and molecular features of congenital disorder of glycosylation in patients with type 1 sialotransferrin pattern and diverse ethnic origins. J Pediatr (2002) 0.91
Smith-Lemli-Opitz syndrome. Expert Rev Mol Med (2011) 0.90
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 (2004) 0.90
Feedback inhibition of the cholesterol biosynthetic pathway in patients with Smith-Lemli-Opitz syndrome as demonstrated by urinary mevalonate excretion. J Lipid Res (2002) 0.89
Cholesterol metabolism and suicidality in Smith-Lemli-Opitz syndrome carriers. Am J Psychiatry (2004) 0.89
Shared familial transmission of autism spectrum and attention-deficit/hyperactivity disorders. J Child Psychol Psychiatry (2014) 0.88
Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. J Perinatol (2003) 0.88
Increased nonsterol isoprenoids, dolichol and ubiquinone, in the Smith-Lemli-Opitz syndrome: effects of dietary cholesterol. J Lipid Res (2006) 0.86
Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders. Am J Med Genet C Semin Med Genet (2012) 0.85
Cellular therapy for childhood neurodegenerative disease. Part II: clinical trial design and implementation. Neurosurg Focus (2008) 0.85
Rhabdomyolysis in the military: recognizing late-onset very long-chain acyl Co-A dehydrogenase deficiency. Mil Med (2006) 0.85
Clinical profile of a male with Rett syndrome. Brain Dev (2005) 0.84
Intestinal absorption of cholesterol by patients with Smith-Lemli-Opitz syndrome. Pediatr Res (2005) 0.84
Reduced elastogenesis: a clue to the arteriosclerosis and emphysematous changes in Schimke immuno-osseous dysplasia? Orphanet J Rare Dis (2012) 0.84
Challenging behavior in Smith-Lemli-Opitz syndrome: initial test of biobehavioral influences. Cogn Behav Neurol (2013) 0.83
Executive strategic processing during verbal fluency performance in children with phenylketonuria. Child Neuropsychol (2010) 0.83
The effects of sterol structure upon sterol esterification. Atherosclerosis (2009) 0.83
Iron status of children with phenylketonuria undergoing nutrition therapy assessed by transferrin receptors. Genet Med (2004) 0.82
Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors. J Genet Couns (2002) 0.82
Mutations in γ adducin are associated with inherited cerebral palsy. Ann Neurol (2013) 0.82
Alterations in membrane caveolae and BKCa channel activity in skin fibroblasts in Smith-Lemli-Opitz syndrome. Mol Genet Metab (2011) 0.80
Enhanced placental cholesterol efflux by fetal HDL in Smith-Lemli-Opitz syndrome. Mol Genet Metab (2008) 0.80
Perinatal onset mevalonate kinase deficiency. Pediatr Dev Pathol (2011) 0.79
Genetics of familial hypercholesterolemia. Curr Atheroscler Rep (2015) 0.78
Response monitoring in children with phenylketonuria. Neuropsychology (2009) 0.78
Processing speed and executive abilities in children with phenylketonuria. Neuropsychology (2012) 0.78
Skeletal abnormalities in lysosomal storage diseases. Pediatr Endocrinol Rev (2013) 0.78
Plasma plant sterol levels do not reflect cholesterol absorption in children with Smith-Lemli-Opitz syndrome. J Pediatr (2008) 0.78
Acute graft-versus-host disease of the heart. Pediatr Blood Cancer (2006) 0.78
Life-threatening adenovirus infections in the setting of the immunocompromised allogeneic stem cell transplant patients. Adv Hematol (2010) 0.78
Lowered DHCR7 activity measured by ergosterol conversion in multiple cell types in Smith-Lemli-Opitz syndrome. Mol Genet Metab (2004) 0.77
Cellular therapy for childhood neurodegenerative disease. Part I: rationale and preclinical studies. Neurosurg Focus (2008) 0.77
Tandem mass spectrometry in newborn screening: a primer for neonatal and perinatal nurses. J Perinat Neonatal Nurs (2004) 0.77
Bisphosphonate therapy for osteogenesis imperfecta. Cochrane Database Syst Rev (2016) 0.77
Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic data. Hum Genet (2015) 0.76
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 (2009) 0.76
A Pilot Study of the Association of Markers of Cholesterol Synthesis with Disturbed Sleep in Smith-Lemli-Opitz Syndrome. J Dev Behav Pediatr (2016) 0.75
Breastfeeding infants with phenylketonuria in the United States and Canada. Breastfeed Med (2013) 0.75
Expanding the limits of the Fryns syndrome. Am J Med Genet A (2003) 0.75
Metabolic disease and sudden unexpected death. J Pediatr (2003) 0.75
In Memoriam: William E. Connor (1921-2009). J Lipid Res (2010) 0.75
Prospects for stem cell therapy in neuronal ceroid lipofuscinosis. Regen Med (2013) 0.75
Lysosomal Disease Network's "WORLD Symposium 2009". Introduction. Mol Genet Metab (2008) 0.75
Commitment to Breastfeeding in the Context of Phenylketonuria. J Obstet Gynecol Neonatal Nurs (2015) 0.75
Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa. Genet Med (2013) 0.75
Emergence of Cunninghamella as a pathogenic invasive mold infection in allogeneic transplant recipients. Clin Lymphoma Myeloma Leuk (2013) 0.75
Executive response monitoring and inhibitory control in children with phenylketonuria: effects of expectancy. Dev Neuropsychol (2013) 0.75