Published in J Clin Endocrinol Metab on August 01, 2004
Newborn screening in North America. J Inherit Metab Dis (2007) 1.93
Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS). J Steroid Biochem Mol Biol (2010) 1.63
Steroid hormone analysis by tandem mass spectrometry. Clin Chem (2009) 1.47
Neonatal screening for congenital adrenal hyperplasia. Nat Rev Endocrinol (2009) 1.40
Tandem mass spectrometry improves the accuracy of free thyroxine measurements during pregnancy. Thyroid (2007) 1.25
Reduction of the false-positive rate in newborn screening by implementation of MS/MS-based second-tier tests: the Mayo Clinic experience (2004-2007). J Inherit Metab Dis (2007) 1.18
Steroid hormone levels in pregnancy and 1 year postpartum using isotope dilution tandem mass spectrometry. Fertil Steril (2005) 1.18
The clinical and biochemical spectrum of congenital adrenal hyperplasia secondary to 21-hydroxylase deficiency. Clin Biochem Rev (2009) 1.08
Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry. Clin Biochem Rev (2009) 1.01
Use of steroid profiles in determining the cause of adrenal insufficiency. Steroids (2006) 0.97
Congenital adrenal hyperplasia: diagnostic advances. J Inherit Metab Dis (2007) 0.90
Steroid profiling by gas chromatography-mass spectrometry and high performance liquid chromatography-mass spectrometry for adrenal diseases. Horm Cancer (2011) 0.87
Mass spectrometry theory and application to adrenal diseases. Mol Cell Endocrinol (2013) 0.85
Comparison of multiple steroid concentrations in serum and dried blood spots throughout the day of patients with congenital adrenal hyperplasia. Horm Res Paediatr (2010) 0.81
An improved micro-method for the measurement of steroid profiles by APPI-LC-MS/MS and its use in assessing diurnal effects on steroid concentrations and optimizing the diagnosis and treatment of adrenal insufficiency and CAH. J Steroid Biochem Mol Biol (2015) 0.81
Precursor-to-product ratios reflect biochemical phenotype in congenital adrenal hyperplasia. Metabolomics (2014) 0.80
Improving neonatal screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab (2004) 0.80
Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry. JIMD Rep (2014) 0.79
Steroid assays in paediatric endocrinology. J Clin Res Pediatr Endocrinol (2010) 0.79
Recent advances in biochemical and molecular analysis of congenital adrenal hyperplasia due to 21-hydroxylase deficiency. Ann Pediatr Endocrinol Metab (2016) 0.76
Novel method to characterize CYP21A2 in Florida patients with congenital adrenal hyperplasia and commercially available cell lines. Mol Genet Metab Rep (2014) 0.75
Pregnanetriolone in paper-borne urine for neonatal screening for 21-hydroxylase deficiency: The place of urine in neonatal screening. Mol Genet Metab Rep (2016) 0.75
Quality performance of newborn screening systems: strategies for improvement. J Inherit Metab Dis (2007) 0.75
The natural history of nonalcoholic fatty liver disease: a population-based cohort study. Gastroenterology (2005) 15.74
Ventilator-associated lung injury in patients without acute lung injury at the onset of mechanical ventilation. Crit Care Med (2004) 5.32
Serum reference intervals and diagnostic ranges for free kappa and free lambda immunoglobulin light chains: relative sensitivity for detection of monoclonal light chains. Clin Chem (2002) 4.24
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: a worldwide collaborative project. Genet Med (2011) 3.21
Ursodeoxycholic acid for treatment of nonalcoholic steatohepatitis: results of a randomized trial. Hepatology (2004) 2.98
Plasma homocysteine in obstructive sleep apnoea. Eur Heart J (2004) 2.85
Resuscitation of newborn infants with 100% oxygen or air: a systematic review and meta-analysis. Lancet (2004) 2.74
Effects of two different doses of amino acid supplementation on growth and blood amino acid levels in premature neonates admitted to the neonatal intensive care unit: a randomized, controlled trial. Pediatrics (2007) 2.46
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Increased levels of plasma acylcarnitines in obesity and type 2 diabetes and identification of a marker of glucolipotoxicity. Obesity (Silver Spring) (2010) 2.23
Combined newborn screening for succinylacetone, amino acids, and acylcarnitines in dried blood spots. Clin Chem (2008) 2.03
Medium-chain acyl-CoA dehydrogenase deficiency in gene-targeted mice. PLoS Genet (2005) 2.03
Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med (2002) 1.96
Fatty acid oxidation disorders. Annu Rev Physiol (2002) 1.96
Survey assessment of personal digital assistant use among trainees and attending physicians. J Am Med Inform Assoc (2003) 1.95
Determination of total homocysteine, methylmalonic acid, and 2-methylcitric acid in dried blood spots by tandem mass spectrometry. Clin Chem (2010) 1.94
Improved specificity of newborn screening for congenital adrenal hyperplasia by second-tier steroid profiling using tandem mass spectrometry. Clin Chem (2003) 1.92
Exome sequencing reveals a novel mutation for autosomal recessive non-syndromic mental retardation in the TECR gene on chromosome 19p13. Hum Mol Genet (2011) 1.70
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology (2005) 1.69
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med (2010) 1.69
The hospital mortality of patients admitted to the ICU on weekends. Chest (2004) 1.66
Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein. Am J Hum Genet (2004) 1.66
Mutations in BCKD-kinase lead to a potentially treatable form of autism with epilepsy. Science (2012) 1.65
Abnormal concentrations of esterified carnitine in bile: a feature of pediatric acute liver failure with poor prognosis. Hepatology (2005) 1.60
Hyperhomocysteinemia accelerates atherosclerosis in cystathionine beta-synthase and apolipoprotein E double knock-out mice with and without dietary perturbation. Blood (2002) 1.59
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem (2008) 1.55
Survival and major neonatal complications in infants born between 22 0/7 and 24 6/7 weeks of gestation (1999-2003). Am J Obstet Gynecol (2006) 1.53
Hepatitis B virus hepatotropism is mediated by specific receptor recognition in the liver and not restricted to susceptible hosts. Hepatology (2013) 1.52
Learning curve and fatigue effect of flicker defined form perimetry. Am J Ophthalmol (2011) 1.49
Correlation of serum immunoglobulin free light chain quantification with urinary Bence Jones protein in light chain myeloma. Clin Chem (2002) 1.49
Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
Commentary on the history and quantitative nature of filter paper used in blood collection devices. Bioanalysis (2012) 1.43
Next generation sequence analysis for mitochondrial disorders. Genome Med (2009) 1.42
Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab (2011) 1.41
Rat hepatocyte spheroids formed by rocked technique maintain differentiated hepatocyte gene expression and function. Hepatology (2009) 1.41
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem (2013) 1.39
Rheumatoid arthritis is an independent risk factor for multi-vessel coronary artery disease: a case control study. Arthritis Res Ther (2005) 1.38
A common mutation is associated with a mild, potentially asymptomatic phenotype in patients with isovaleric acidemia diagnosed by newborn screening. Am J Hum Genet (2004) 1.38
Increased levels of antimicrobial peptides in tracheal aspirates of newborn infants during infection. Am J Respir Crit Care Med (2002) 1.38
Mortality rate and length of stay of patients admitted to the intensive care unit in July. Crit Care Med (2004) 1.37
Rapid, large-scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver. Liver Transpl (2005) 1.36
Familial idiopathic pulmonary fibrosis: clinical features and outcome. Chest (2005) 1.34
Neurologic considerations in propionic acidemia. Mol Genet Metab (2011) 1.34
Acylcarnitine profile analysis. Genet Med (2008) 1.33
Synergistic heterozygosity in mice with inherited enzyme deficiencies of mitochondrial fatty acid beta-oxidation. Mol Genet Metab (2005) 1.33
S-adenosylhomocysteine hydrolase deficiency in a human: a genetic disorder of methionine metabolism. Proc Natl Acad Sci U S A (2004) 1.32
Acute management of propionic acidemia. Mol Genet Metab (2011) 1.30
Early neurodegeneration progresses independently of microglial activation by heparan sulfate in the brain of mucopolysaccharidosis IIIB mice. PLoS One (2008) 1.30
American Association of Clinical Endocrinologists medical guidelines for clinical practice for growth hormone use in adults and children--2003 update. Endocr Pract (2003) 1.30
Effect of emailed messages on return use of a nutrition education website and subsequent changes in dietary behavior. J Med Internet Res (2007) 1.29
Metabolomic profiling of fatty acid and amino acid metabolism in youth with obesity and type 2 diabetes: evidence for enhanced mitochondrial oxidation. Diabetes Care (2012) 1.27
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis (2010) 1.26
Natural history of propionic acidemia. Mol Genet Metab (2011) 1.24
A Delphi-based consensus clinical practice protocol for the diagnosis and management of 3-methylcrotonyl CoA carboxylase deficiency. Mol Genet Metab (2007) 1.23
The frequency of short-chain acyl-CoA dehydrogenase gene variants in the US population and correlation with the C(4)-acylcarnitine concentration in newborn blood spots. Mol Genet Metab (2003) 1.21
Inactivation of the glucocorticoid receptor in hepatocytes leads to fasting hypoglycemia and ameliorates hyperglycemia in streptozotocin-induced diabetes mellitus. Mol Endocrinol (2004) 1.21
TMEM165 deficiency causes a congenital disorder of glycosylation. Am J Hum Genet (2012) 1.20
Colorectal cancer prognosis among patients with inflammatory bowel disease. Clin Gastroenterol Hepatol (2006) 1.20
Acute lung injury after blood transfusion in mechanically ventilated patients. Transfusion (2004) 1.20
Improving newborn screening laboratory test ordering and result reporting using health information exchange. J Am Med Inform Assoc (2010) 1.17
The ACADS gene variation spectrum in 114 patients with short-chain acyl-CoA dehydrogenase (SCAD) deficiency is dominated by missense variations leading to protein misfolding at the cellular level. Hum Genet (2008) 1.16
Optimal dietary therapy of long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency. Mol Genet Metab (2003) 1.16
Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab (2010) 1.15
Hypercapnic acidosis impairs plasma membrane wound resealing in ventilator-injured lungs. Am J Respir Crit Care Med (2005) 1.15
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab (2012) 1.13
Hyperhomocysteinemia inhibits post-injury reendothelialization in mice. Cardiovasc Res (2005) 1.12
Comparison of amino acids and acylcarnitines assay methods used in newborn screening assays by tandem mass spectrometry. Clin Chim Acta (2010) 1.11
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab (2010) 1.09
A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder. J Health Soc Behav (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
Genetic and environmental contributions to phenotypic components of metabolic syndrome: a population-based twin study. Obesity (Silver Spring) (2009) 1.06
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab (2013) 1.05