Published in Mol Genet Metab on January 31, 2006
Newborn screening in North America. J Inherit Metab Dis (2007) 1.93
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
Principles and applications of liquid chromatography-mass spectrometry in clinical biochemistry. Clin Biochem Rev (2009) 1.01
Newborn screening. Clin Biochem Rev (2010) 0.98
Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice. Orphanet J Rare Dis (2014) 0.94
Significant increase of succinylacetone within the first 12 h of life in hereditary tyrosinemia type 1. Eur J Pediatr (2009) 0.82
Succinylacetone as primary marker to detect tyrosinemia type I in newborns and its measurement by newborn screening programs. Mol Genet Metab (2014) 0.82
Identification of a gene causing human cytochrome c oxidase deficiency by integrative genomics. Proc Natl Acad Sci U S A (2003) 6.87
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
A diet-induced mouse model for glutaric aciduria type I. Brain (2006) 2.31
A Delphi clinical practice protocol for the management of very long chain acyl-CoA dehydrogenase deficiency. Mol Genet Metab (2009) 2.25
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
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
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
Steroid profiling by tandem mass spectrometry improves the positive predictive value of newborn screening for congenital adrenal hyperplasia. J Clin Endocrinol Metab (2004) 1.91
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
Committee report: Method for evaluating conditions nominated for population-based screening of newborns and children. Genet Med (2010) 1.69
Mice heterozygous for a defect in mitochondrial trifunctional protein develop hepatic steatosis and insulin resistance. Gastroenterology (2005) 1.69
Deficiency of liver adipose triglyceride lipase in mice causes progressive hepatic steatosis. Hepatology (2011) 1.68
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
Hypoglycosylation with increased fucosylation and branching of serum transferrin N-glycans in untreated galactosemia. Glycobiology (2005) 1.56
Tryptic peptide analysis of ceruloplasmin in dried blood spots using liquid chromatography-tandem mass spectrometry: application to newborn screening. Clin Chem (2008) 1.55
Cutaneous porphyrias part I: epidemiology, pathogenesis, presentation, diagnosis, and histopathology. Int J Dermatol (2013) 1.53
Pathways and control of ketone body metabolism: on the fringe of lipid biochemistry. Prostaglandins Leukot Essent Fatty Acids (2004) 1.51
A treatable new cause of chorea: beta-ketothiolase deficiency. Mov Disord (2013) 1.47
Expanded newborn screening identifies maternal primary carnitine deficiency. Mol Genet Metab (2006) 1.44
Newborn screening for X-linked adrenoleukodystrophy (X-ALD): validation of a combined liquid chromatography-tandem mass spectrometric (LC-MS/MS) method. Mol Genet Metab (2009) 1.44
Recurrent pancreatitis in mitochondrial cytopathy. Am J Med Genet A (2006) 1.44
Enhanced interpretation of newborn screening results without analyte cutoff values. Genet Med (2012) 1.44
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
Carboxylesterase 3 (EC 3.1.1.1) is a major adipocyte lipase. J Biol Chem (2004) 1.40
High-throughput immunoassay for the biochemical diagnosis of Friedreich ataxia in dried blood spots and whole blood. Clin Chem (2013) 1.39
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
Rapid, large-scale formation of porcine hepatocyte spheroids in a novel spheroid reservoir bioartificial liver. Liver Transpl (2005) 1.36
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
Acute management of propionic acidemia. Mol Genet Metab (2011) 1.30
Hormone-sensitive lipase has a role in lipid signaling for insulin secretion but is nonessential for the incretin action of glucagon-like peptide 1. Diabetes (2004) 1.29
BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition. Hum Mutat (2011) 1.28
Lipolysis and the integrated physiology of lipid energy metabolism. Mol Genet Metab (2008) 1.27
Disorders of mitochondrial function. Curr Opin Pediatr (2008) 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
Long-term outcome and clinical spectrum of 73 pediatric patients with mitochondrial diseases. Pediatrics (2007) 1.21
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy. Hum Mutat (2014) 1.17
Hormone-sensitive lipase knockout mice have increased hepatic insulin sensitivity and are protected from short-term diet-induced insulin resistance in skeletal muscle and heart. Am J Physiol Endocrinol Metab (2005) 1.17
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
Effect of nitisinone (NTBC) treatment on the clinical course of hepatorenal tyrosinemia in Québec. Mol Genet Metab (2012) 1.13
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem (2005) 1.09
Allelic diversity in MCAD deficiency: the biochemical classification of 54 variants identified during 5 years of ACADM sequencing. Mol Genet Metab (2010) 1.09
Ornithine deficiency in the arginase double knockout mouse. Mol Genet Metab (2006) 1.08
Biochemical, pathologic and behavioral analysis of a mouse model of glutaric acidemia type I. Hum Mol Genet (2002) 1.08
A disservice to advances in newborn genetic screening: comment on Timmermans and Buchbinder. J Health Soc Behav (2011) 1.07
Fasting energy homeostasis in mice with adipose deficiency of desnutrin/adipose triglyceride lipase. Endocrinology (2012) 1.07
Mechanism of age-dependent susceptibility and novel treatment strategy in glutaric acidemia type I. J Clin Invest (2007) 1.07
Diagnostic accuracy of blood lactate-to-pyruvate molar ratio in the differential diagnosis of congenital lactic acidosis. Clin Chem (2007) 1.06
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
Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet (2015) 1.06
Deficiency of asparagine synthetase causes congenital microcephaly and a progressive form of encephalopathy. Neuron (2013) 1.06
Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry. Pediatrics (2003) 1.05
Clinical molecular diagnosis of Wilson disease. Semin Liver Dis (2011) 1.05
Combined liquid chromatography-tandem mass spectrometry as an analytical method for high throughput screening for X-linked adrenoleukodystrophy and other peroxisomal disorders: preliminary findings. Mol Genet Metab (2006) 1.05
Mutations in chaperonin-like BBS genes are a major contributor to disease development in a multiethnic Bardet-Biedl syndrome patient population. J Med Genet (2010) 1.02
Mucopolysaccharidosis IVA: correlation between genotype, phenotype and keratan sulfate levels. Mol Genet Metab (2013) 1.02
Measurement of psychosine in dried blood spots--a possible improvement to newborn screening programs for Krabbe disease. J Inherit Metab Dis (2015) 1.01