Published in Am J Hum Genet on May 01, 1993
ENU mutagenesis identifies mice with mitochondrial branched-chain aminotransferase deficiency resembling human maple syrup urine disease. J Clin Invest (2004) 2.08
The tandem mass spectrometry newborn screening experience in North Carolina: 1997-2005. J Inherit Metab Dis (2006) 1.51
Quantitative plasma acylcarnitine analysis using electrospray tandem mass spectrometry for the diagnosis of organic acidaemias and fatty acid oxidation defects. J Inherit Metab Dis (1999) 1.32
Outcome of medium chain acyl-CoA dehydrogenase deficiency after diagnosis. Arch Dis Child (1999) 1.32
Metabonomic fingerprints of fasting plasma and spot urine reveal human pre-diabetic metabolic traits. Metabolomics (2010) 1.24
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
Neonatal screening for medium-chain acyl-CoA dehydrogenase (MCAD) deficiency in The Netherlands: the importance of enzyme analysis to ascertain true MCAD deficiency. J Inherit Metab Dis (2008) 1.13
Evaluation of fasts for investigating hypoglycaemia or suspected metabolic disease. Arch Dis Child (1996) 1.08
Metabolic remodeling of human skeletal myocytes by cocultured adipocytes depends on the lipolytic state of the system. Diabetes (2011) 1.05
Screening for medium chain acyl-CoA dehydrogenase deficiency using electrospray ionisation tandem mass spectrometry. Arch Dis Child (1998) 1.03
Clinical chemistry and dried blood spots: increasing laboratory utilization by improved understanding of quantitative challenges. Bioanalysis (2014) 1.02
Alterations in skeletal muscle fatty acid handling predisposes middle-aged mice to diet-induced insulin resistance. Diabetes (2010) 1.00
Serum levels of acylcarnitines are altered in prediabetic conditions. PLoS One (2013) 0.98
Acylcarnitines in plasma and blood spots of patients with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase defiency. J Inherit Metab Dis (2000) 0.97
A novel mutation in medium chain acyl-CoA dehydrogenase causes sudden neonatal death. J Clin Invest (1994) 0.89
L-Carnitine. Arch Dis Child (1996) 0.89
Methyl-donor supplementation in obese mice prevents the progression of NAFLD, activates AMPK and decreases acyl-carnitine levels. Mol Metab (2014) 0.89
Disease-causing mutations in exon 11 of the medium-chain acyl-CoA dehydrogenase gene. Am J Hum Genet (1994) 0.88
A novel mutation of the ACADM gene (c.145C>G) associated with the common c.985A>G mutation on the other ACADM allele causes mild MCAD deficiency: a case report. Orphanet J Rare Dis (2010) 0.87
The effect of respiratory chain impairment of beta-oxidation in rat heart mitochondria. Biochem J (1996) 0.87
Dynamic simulations on the mitochondrial fatty acid beta-oxidation network. BMC Syst Biol (2009) 0.83
Rhabdomyolysis and acute encephalopathy in late onset medium chain acyl-CoA dehydrogenase deficiency. J Neurol Neurosurg Psychiatry (1995) 0.81
Expanded newborn screening: Lessons learned from MCAD deficiency. Paediatr Child Health (2004) 0.79
The evolution of blood-spot newborn screening. Transl Pediatr (2014) 0.78
Maternal Early Pregnancy Serum Metabolomics Profile and Abnormal Vaginal Bleeding as Predictors of Placental Abruption: A Prospective Study. PLoS One (2016) 0.77
An update on the ketogenic diet, 2012. Rambam Maimonides Med J (2012) 0.76
Evaluation of diagnostic fasting in the investigation of hypoglycemia in children omani experienc. Oman Med J (2007) 0.75
Clinical, biochemical and genetic analyses in two Korean patients with medium-chain acyl-CoA dehydrogenase deficiency. Korean J Lab Med (2011) 0.75
Alterations in the carnitine cycle in a mouse model of Rett syndrome. Sci Rep (2017) 0.75
Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T. Case Rep Genet (2015) 0.75
Metabolic changes in serum metabolome in response to a meal. Eur J Nutr (2015) 0.75
Carnitine. Annu Rev Biochem (1988) 2.74
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis (1990) 2.53
Medium-chain acyl-CoA dehydrogenase deficiency in children with non-ketotic hypoglycemia and low carnitine levels. Pediatr Res (1983) 1.91
Fatty acid oxidation disorders: a new class of metabolic diseases. J Pediatr (1992) 1.85
Molecular lesion in patients with medium-chain acyl-CoA dehydrogenase deficiency. Lancet (1990) 1.82
Genetic deficiency of medium-chain acyl coenzyme A dehydrogenase: studies in cultured skin fibroblasts and peripheral mononuclear leukocytes. Pediatr Res (1985) 1.75
Prevalence of K329E mutation in medium-chain acyl-CoA dehydrogenase gene determined from Guthrie cards. Lancet (1991) 1.66
Complementation analysis of fatty acid oxidation disorders. J Clin Invest (1987) 1.66
Rapid diagnosis of phenylketonuria by quantitative analysis for phenylalanine and tyrosine in neonatal blood spots by tandem mass spectrometry. Clin Chem (1993) 1.41
Recognition of medium-chain acyl-CoA dehydrogenase deficiency in asymptomatic siblings of children dying of sudden infant death or Reye-like syndromes. J Pediatr (1986) 1.40
Molecular survey of a prevalent mutation, 985A-to-G transition, and identification of five infrequent mutations in the medium-chain Acyl-CoA dehydrogenase (MCAD) gene in 55 patients with MCAD deficiency. Am J Hum Genet (1991) 1.38
Diagnostic and therapeutic implications of medium-chain acylcarnitines in the medium-chain acyl-coA dehydrogenase deficiency. Pediatr Res (1985) 1.31
Frequency of the G985 MCAD mutation in the general population. Lancet (1991) 1.30
Application of fast atom bombardment with tandem mass spectrometry and liquid chromatography/mass spectrometry to the analysis of acylcarnitines in human urine, blood, and tissue. Anal Biochem (1989) 1.28
The use of phenylpropionic acid as a loading test for medium-chain acyl-CoA dehydrogenase deficiency. J Inherit Metab Dis (1988) 1.20
Purification and properties of acyl coenzyme A dehydrogenases from bovine liver. Formation of 2-trans,4-cis-decadienoyl coenzyme A. J Biol Chem (1984) 1.03
Early diagnosis and treatment of neonatal medium-chain acyl-CoA dehydrogenase deficiency: report of two siblings. Eur J Pediatr (1990) 1.01
Quantitation of acyl-CoA and acylcarnitine esters accumulated during abnormal mitochondrial fatty acid oxidation. J Biol Chem (1991) 0.99
Cis-4-decenoic acid in plasma: a characteristic metabolite in medium-chain acyl-CoA dehydrogenase deficiency. Clin Chem (1988) 0.91
The role of tandem mass spectrometry in the diagnosis of fatty acid oxidation disorders. Prog Clin Biol Res (1992) 0.87
Stable isotope dilution analysis of n-hexanoylglycine, 3-phenylpropionylglycine and suberylglycine in human urine using chemical ionization gas chromatography/mass spectrometry selected ion monitoring. Biomed Environ Mass Spectrom (1989) 0.87
Diagnosis of medium chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in dried blood spots. Clin Chim Acta (1992) 0.86
Genetic heterogeneity in MCAD deficiency: frequency of K329E allele and identification of three additional mutant alleles. Prog Clin Biol Res (1992) 0.86
Rapid diagnosis of medium-chain acyl CoA dehydrogenase deficiency by measurement of cis-4-decenoic acid in plasma. J Inherit Metab Dis (1991) 0.84
Carnitine homeostasis in the organic acidurias. Prog Clin Biol Res (1990) 0.82
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. J Pediatr (1990) 0.82
Detection and quantitation of acylcarnitines in plasma and blood spots from patients with inborn errors of fatty acid oxidation. Prog Clin Biol Res (1992) 0.81
The sequence of the human genome. Science (2001) 101.55
Enhanced Th1 activity and development of chronic enterocolitis in mice devoid of Stat3 in macrophages and neutrophils. Immunity (1999) 7.90
Evolution and phylogeny of Wolbachia: reproductive parasites of arthropods. Proc Biol Sci (1995) 5.70
Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology (2006) 5.67
The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation. Nat Cell Biol (2001) 5.36
A survey of the humoral immune response of cancer patients to a panel of human tumor antigens. J Exp Med (1998) 5.06
Mechanisms of epithelial cell-cell adhesion and cell compaction revealed by high-resolution tracking of E-cadherin-green fluorescent protein. J Cell Biol (1998) 5.03
American College of Rheumatology classification criteria for Sjögren's syndrome: a data-driven, expert consensus approach in the Sjögren's International Collaborative Clinical Alliance cohort. Arthritis Care Res (Hoboken) (2012) 4.82
Simultaneous humoral and cellular immune response against cancer-testis antigen NY-ESO-1: definition of human histocompatibility leukocyte antigen (HLA)-A2-binding peptide epitopes. J Exp Med (1998) 4.65
Regulation of elongation factor 2 kinase by p90(RSK1) and p70 S6 kinase. EMBO J (2001) 4.40
Microarrays: handling the deluge of data and extracting reliable information. Trends Biotechnol (2001) 4.38
Cell-surface receptors for gibbon ape leukemia virus and amphotropic murine retrovirus are inducible sodium-dependent phosphate symporters. Proc Natl Acad Sci U S A (1994) 4.07
Limb and skin abnormalities in mice lacking IKKalpha. Science (1999) 3.85
The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution. Neuron (2001) 3.68
Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet (1999) 3.60
Recombinant human acid alpha-glucosidase enzyme therapy for infantile glycogen storage disease type II: results of a phase I/II clinical trial. Genet Med (2001) 3.60
Glycogen storage disease in adults. Ann Intern Med (1994) 3.58
Evidence-based recommendations for the role of exercise in the management of osteoarthritis of the hip or knee--the MOVE consensus. Rheumatology (Oxford) (2004) 3.38
LAT is required for TCR-mediated activation of PLCgamma1 and the Ras pathway. Immunity (1998) 3.36
Analysis of effects of salts and uncharged solutes on protein and nucleic acid equilibria and processes: a practical guide to recognizing and interpreting polyelectrolyte effects, Hofmeister effects, and osmotic effects of salts. Adv Protein Chem (1998) 3.30
Dynamic actin polymerization drives T cell receptor-induced spreading: a role for the signal transduction adaptor LAT. Immunity (2001) 3.29
New paths in human cancer serology. J Exp Med (1998) 3.12
p70S6 kinase signals cell survival as well as growth, inactivating the pro-apoptotic molecule BAD. Proc Natl Acad Sci U S A (2001) 3.11
Molecular basis of T cell inactivation by CTLA-4. Science (1998) 3.00
Induction of primary NY-ESO-1 immunity: CD8+ T lymphocyte and antibody responses in peptide-vaccinated patients with NY-ESO-1+ cancers. Proc Natl Acad Sci U S A (2000) 3.00
Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr (2006) 2.97
Rickettsial relative associated with male killing in the ladybird beetle (Adalia bipunctata). J Bacteriol (1994) 2.97
Immunohistochemical analysis of NY-ESO-1 antigen expression in normal and malignant human tissues. Int J Cancer (2001) 2.95
Isolation of an efficient actin promoter for use in rice transformation. Plant Cell (1990) 2.94
Stable exposure of the coreceptor-binding site in a CD4-independent HIV-1 envelope protein. Proc Natl Acad Sci U S A (1999) 2.88
Aerobic walking or strengthening exercise for osteoarthritis of the knee? A systematic review. Ann Rheum Dis (2005) 2.88
Monitoring CD8 T cell responses to NY-ESO-1: correlation of humoral and cellular immune responses. Proc Natl Acad Sci U S A (2000) 2.79
Visualizing the kinetics of tumor-cell clearance in living animals. Proc Natl Acad Sci U S A (1999) 2.76
Predictors of readmission among elderly survivors of admission with heart failure. Am Heart J (2000) 2.71
Site-directed alkylation and the alternating access model for LacY. Proc Natl Acad Sci U S A (2006) 2.65
The JIL-1 tandem kinase mediates histone H3 phosphorylation and is required for maintenance of chromatin structure in Drosophila. Cell (2001) 2.64
Wild-type human p53 and a temperature-sensitive mutant induce Fas/APO-1 expression. Mol Cell Biol (1995) 2.62
Mortality and cancer incidence following occupational radiation exposure: third analysis of the National Registry for Radiation Workers. Br J Cancer (2009) 2.58
Tandem mass spectrometry: a new method for acylcarnitine profiling with potential for neonatal screening for inborn errors of metabolism. J Inherit Metab Dis (1990) 2.53
Regulation of cell migration by the calcium-dependent protease calpain. J Biol Chem (1997) 2.52
LAT is essential for Fc(epsilon)RI-mediated mast cell activation. Immunity (2000) 2.48
The PIE-1 protein and germline specification in C. elegans embryos. Nature (1996) 2.46
Factors affecting synthesis of ascorbic acid in cress seedlings. 2. Ascorbic acid synthesis in relation to sugar formation. Biochem J (1949) 2.46
The optimal measure of allelic association. Proc Natl Acad Sci U S A (2001) 2.41
Association of genetic variation in FTO with risk of obesity and type 2 diabetes with data from 96,551 East and South Asians. Diabetologia (2011) 2.37
Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells. Immunol Lett (2000) 2.33
Genome comparisons reveal a dominant mechanism of chromosome number reduction in grasses and accelerated genome evolution in Triticeae. Proc Natl Acad Sci U S A (2009) 2.32
Humoral immune responses of cancer patients against "Cancer-Testis" antigen NY-ESO-1: correlation with clinical events. Int J Cancer (1999) 2.26
Targeted disruption of mouse long-chain acyl-CoA dehydrogenase gene reveals crucial roles for fatty acid oxidation. Proc Natl Acad Sci U S A (1998) 2.22
Microstructural fingerprints of phase transitions in shock-loaded iron. Sci Rep (2013) 2.17
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. J Pediatr (1994) 2.16
Signal transduction by the high-affinity GM-CSF receptor: two distinct cytoplasmic regions of the common beta subunit responsible for different signaling. EMBO J (1993) 2.11
Vaccination of malignant glioma patients with peptide-pulsed dendritic cells elicits systemic cytotoxicity and intracranial T-cell infiltration. Cancer Res (2001) 2.11
A fern that hyperaccumulates arsenic. Nature (2001) 2.08
Amino acid-dependent control of p70(s6k). Involvement of tRNA aminoacylation in the regulation. J Biol Chem (1999) 2.08
The novel peptide apelin lowers blood pressure via a nitric oxide-dependent mechanism. Regul Pept (2001) 2.07
A novel augmentation strategy for treating resistant major depression. Am J Psychiatry (2001) 2.05
Reliability of reported sunburn history in a case-control study of cutaneous malignant melanoma. Am J Epidemiol (1995) 2.05
Cloning of a brain protein identified by autoantibodies from a patient with paraneoplastic cerebellar degeneration. Proc Natl Acad Sci U S A (1987) 2.05
Serological identification of embryonic neural proteins as highly immunogenic tumor antigens in small cell lung cancer. Proc Natl Acad Sci U S A (2000) 2.02
Genetic evidence for differential coupling of Syk family kinases to the T-cell receptor: reconstitution studies in a ZAP-70-deficient Jurkat T-cell line. Mol Cell Biol (1998) 2.01
A multivariate analysis of genomic polymorphisms: prediction of clinical outcome to 5-FU/oxaliplatin combination chemotherapy in refractory colorectal cancer. Br J Cancer (2004) 2.01
CXCR-4 (Fusin), a co-receptor for the type 1 human immunodeficiency virus (HIV-1), is expressed in the human brain in a variety of cell types, including microglia and neurons. Am J Pathol (1997) 2.00
Targeted disruption of p70(s6k) defines its role in protein synthesis and rapamycin sensitivity. Proc Natl Acad Sci U S A (1998) 1.97
Air quality improvement estimation and assessment using contingent valuation method, a case study in Beijing. Environ Monit Assess (2006) 1.96
Genetic analysis of enterovirus 71 isolated from fatal and non-fatal cases of hand, foot and mouth disease during an epidemic in Taiwan, 1998. Virus Res (2000) 1.95
IL-18 and IL-12 induce intestinal inflammation and fatty liver in mice in an IFN-gamma dependent manner. Gut (2000) 1.95
MiR-200b and miR-15b regulate chemotherapy-induced epithelial-mesenchymal transition in human tongue cancer cells by targeting BMI1. Oncogene (2011) 1.94
Gestational, pathologic and biochemical differences between very long-chain acyl-CoA dehydrogenase deficiency and long-chain acyl-CoA dehydrogenase deficiency in the mouse. Hum Mol Genet (2001) 1.93
Early defects of GABAergic synapses in the brain stem of a MeCP2 mouse model of Rett syndrome. J Neurophysiol (2007) 1.93
Antigens recognized by autologous antibody in patients with renal-cell carcinoma. Int J Cancer (1999) 1.91
The three-dimensional structure of H-2Db at 2.4 A resolution: implications for antigen-determinant selection. Cell (1994) 1.90
Cornstarch therapy in type I glycogen-storage disease. N Engl J Med (1984) 1.88
Reactivation of insulin-like growth factor binding protein 2 expression in glioblastoma multiforme: a revelation by parallel gene expression profiling. Cancer Res (1999) 1.88
Evasion of immune responses to introduced human acid alpha-glucosidase by liver-restricted expression in glycogen storage disease type II. Mol Ther (2005) 1.87
Cholinergic dilation of cerebral blood vessels is abolished in M(5) muscarinic acetylcholine receptor knockout mice. Proc Natl Acad Sci U S A (2001) 1.87
Mechanism of topology simplification by type II DNA topoisomerases. Proc Natl Acad Sci U S A (2001) 1.87
A mouse mutant p53 product recognized by CD4+ and CD8+ T cells. Proc Natl Acad Sci U S A (1994) 1.86
The clinical phenotype of succinic semialdehyde dehydrogenase deficiency (4-hydroxybutyric aciduria): case reports of 23 new patients. Pediatrics (1997) 1.86
A genomic island, termed high-pathogenicity island, is present in certain non-O157 Shiga toxin-producing Escherichia coli clonal lineages. Infect Immun (1999) 1.86
Structural basis of the recognition of the dishevelled DEP domain in the Wnt signaling pathway. Nat Struct Biol (2000) 1.85
MicroRNA-320 expression in myocardial microvascular endothelial cells and its relationship with insulin-like growth factor-1 in type 2 diabetic rats. Clin Exp Pharmacol Physiol (2008) 1.84
The Hound of the Baskervilles effect: natural experiment on the influence of psychological stress on timing of death. BMJ (2001) 1.83
Hepatic carnitine palmitoyltransferase I deficiency presenting as maternal illness in pregnancy. Pediatr Res (2000) 1.83
Predicting one-year mortality among elderly survivors of hospitalization for an acute myocardial infarction: results from the Cooperative Cardiovascular Project. J Am Coll Cardiol (2001) 1.83
Characterization of human colon cancer antigens recognized by autologous antibodies. Int J Cancer (1998) 1.82
Characterization of S6K2, a novel kinase homologous to S6K1. Oncogene (1999) 1.82
Nomenclature of the GLUT/SLC2A family of sugar/polyol transport facilitators. Am J Physiol Endocrinol Metab (2002) 1.82
Tissue specific perfusion imaging using arterial spin labeling. NMR Biomed (1994) 1.82
Correlates and impact on outcomes of worsening renal function in patients > or =65 years of age with heart failure. Am J Cardiol (2000) 1.81
Obesity and overweight in Canada: an updated cost-of-illness study. Obes Rev (2009) 1.78
The importance of identification of the myocardial-specific isoenzyme of creatine phosphokinase (MB form) in the diagnosis of acute myocardial infarction. Circulation (1973) 1.78
A sensitivity analysis of enzymatic estimation of infarct size. Circulation (1975) 1.77
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology (2007) 1.77
A Glu-496 to Ala polymorphism leads to loss of function of the human P2X7 receptor. J Biol Chem (2001) 1.77
IkappaB kinase alpha is essential for mature B cell development and function. J Exp Med (2001) 1.76
Intracellular labeling of T-cells with superparamagnetic contrast agents. Magn Reson Med (1993) 1.76
Identification of NY-ESO-1 peptide analogues capable of improved stimulation of tumor-reactive CTL. J Immunol (2000) 1.76
SC35 plays a role in T cell development and alternative splicing of CD45. Mol Cell (2001) 1.76