Published in Pediatr Res on November 01, 2002
Acylcarnitines are anticoagulants that inhibit factor Xa and are reduced in venous thrombosis, based on metabolomics data. Blood (2015) 1.44
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination. J Inherit Metab Dis (2008) 0.92
Carnitine deficiency in OCTN2-/- newborn mice leads to a severe gut and immune phenotype with widespread atrophy, apoptosis and a pro-inflammatory response. PLoS One (2012) 0.82
Gestational dating by metabolic profile at birth: a California cohort study. Am J Obstet Gynecol (2015) 0.81
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Principles of pediatric emergency care. Dtsch Arztebl Int (2009) 3.14
Resuscitation of newborn infants with 100% oxygen or air: a systematic review and meta-analysis. Lancet (2004) 2.74
Expanded newborn screening for inborn errors of metabolism by electrospray ionization-tandem mass spectrometry: results, outcome, and implications. Pediatrics (2003) 2.66
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study. Lancet Neurol (2010) 2.60
NMDA receptor activation and respiratory chain complex V inhibition contribute to neurodegeneration in d-2-hydroxyglutaric aciduria. Eur J Neurosci (2002) 2.54
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Diagnosis and management of glutaric aciduria type I--revised recommendations. J Inherit Metab Dis (2011) 2.14
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
Fanconi syndrome caused by antiepileptic therapy with valproic Acid. Epilepsia (2004) 1.87
Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase. Hum Mol Genet (2005) 1.87
Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. Hum Mutat (2003) 1.86
Fabry disease-often seen, rarely diagnosed. Dtsch Arztebl Int (2009) 1.85
Feasibility study and control values of transient elastography in healthy children. Eur J Pediatr (2011) 1.80
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease. Brain (2009) 1.71
Early clinical experiences with the new influenza A (H1N1/09). Dtsch Arztebl Int (2009) 1.65
Physical exercise-induced hypoglycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells. Am J Hum Genet (2007) 1.62
Caffeine impairs cerebral and intestinal blood flow velocity in preterm infants. Pediatrics (2002) 1.59
Cleavage of L1 in exosomes and apoptotic membrane vesicles released from ovarian carcinoma cells. Clin Cancer Res (2005) 1.54
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
Pharmacokinetics of a netilmicin loading dose on the first postnatal day in preterm neonates with very low gestational age. Eur J Clin Pharmacol (2006) 1.51
Learning curve and fatigue effect of flicker defined form perimetry. Am J Ophthalmol (2011) 1.49
Effectiveness and side effects of an escalating, stepwise approach to indomethacin treatment for symptomatic patent ductus arteriosus in premature infants below 33 weeks of gestation. Pediatrics (2005) 1.49
Design principles for virtual patients: a focus group study among students. Med Educ (2009) 1.48
Pseudotumor cerebri as an important differential diagnosis of papilledema in children. Brain Dev (2005) 1.46
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. J Inherit Metab Dis (2013) 1.45
Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut-, cblA, cblB). Pediatr Res (2007) 1.44
Rituximab as a highly effective treatment in a female adolescent with severe multiple sclerosis. Dev Med Child Neurol (2009) 1.42
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 1. From blood spot to screening result. J Inherit Metab Dis (2012) 1.41
Baby-walkers: an avoidable source of hazard. Lancet (2008) 1.41
Naive regulatory T cells: a novel subpopulation defined by resistance toward CD95L-mediated cell death. Blood (2006) 1.40
Crossed cerebellar diaschisis after status epilepticus in a young child. Neuropediatrics (2012) 1.40
Increased levels of antimicrobial peptides in tracheal aspirates of newborn infants during infection. Am J Respir Crit Care Med (2002) 1.38
Neonatal screening for very long-chain acyl-coA dehydrogenase deficiency: enzymatic and molecular evaluation of neonates with elevated C14:1-carnitine levels. Pediatrics (2006) 1.38
Hunter disease before and during enzyme replacement therapy. Pediatr Neurol (2011) 1.38
Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance. J Inherit Metab Dis (2012) 1.34
A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism. Brain (2010) 1.34
Physical exercise-induced hyperinsulinemic hypoglycemia is an autosomal-dominant trait characterized by abnormal pyruvate-induced insulin release. Diabetes (2003) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 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
Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome. Orphanet J Rare Dis (2006) 1.32
A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry (2013) 1.31
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nat Genet (2012) 1.31
Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol (2010) 1.31
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. J Biol Chem (2002) 1.27
Newborn screening for disorders of fatty-acid oxidation: experience and recommendations from an expert meeting. J Inherit Metab Dis (2010) 1.26
Mevalonate kinase deficiency and autoinflammatory disorders. N Engl J Med (2007) 1.26
An international survey of patients with tetrahydrobiopterin deficiencies presenting with hyperphenylalaninaemia. J Inherit Metab Dis (2012) 1.23
Secondary mitochondrial dysfunction in propionic aciduria: a pathogenic role for endogenous mitochondrial toxins. Biochem J (2006) 1.23
Inactivation of the glucocorticoid receptor in hepatocytes leads to fasting hypoglycemia and ameliorates hyperglycemia in streptozotocin-induced diabetes mellitus. Mol Endocrinol (2004) 1.21
Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain (2009) 1.20
Decline of acute encephalopathic crises in children with glutaryl-CoA dehydrogenase deficiency identified by newborn screening in Germany. Pediatr Res (2007) 1.18
Transient fulminant liver failure as an initial presentation in citrullinemia type I. Mol Genet Metab (2010) 1.15
Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany. Orphanet J Rare Dis (2011) 1.14
Alpha 2,3-sialyltransferase-IV is essential for L-selectin ligand function in inflammation. Eur J Immunol (2006) 1.13
Tyrosine hydroxylase deficiency: a treatable disorder of brain catecholamine biosynthesis. Brain (2010) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol (2003) 1.12
Therapeutic modulation of cerebral L-lysine metabolism in a mouse model for glutaric aciduria type I. Brain (2010) 1.11
Deficiency of UDP-galactose:N-acetylglucosamine beta-1,4-galactosyltransferase I causes the congenital disorder of glycosylation type IId. J Clin Invest (2002) 1.10
Deficiency in SLC25A1, encoding the mitochondrial citrate carrier, causes combined D-2- and L-2-hydroxyglutaric aciduria. Am J Hum Genet (2013) 1.09
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
Life cell quantification of mitochondrial membrane potential at the single organelle level. Cytometry A (2008) 1.09
Bioenergetics in glutaryl-coenzyme A dehydrogenase deficiency: a role for glutaryl-coenzyme A. J Biol Chem (2005) 1.09
Vitamin D deficiency in healthy children in a sunny country: associated factors. Int J Food Sci Nutr (2008) 1.09
beta-Ureidopropionase deficiency: an inborn error of pyrimidine degradation associated with neurological abnormalities. Hum Mol Genet (2004) 1.08
Mevalonate kinase deficiency: enlarging the clinical and biochemical spectrum. Pediatrics (2003) 1.07
Newborn population screening for classic homocystinuria by determination of total homocysteine from Guthrie cards. J Pediatr (2009) 1.07
Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik. Hum Mol Genet (2004) 1.07
Public, expert and patients' opinions on preimplantation genetic diagnosis (PGD) in Germany. Reprod Biomed Online (2005) 1.07
Determinants of blood pressure in preschool children: the role of parental smoking. Circulation (2011) 1.07
Neurocognitive outcome in patients with hypertyrosinemia type I after long-term treatment with NTBC. J Inherit Metab Dis (2011) 1.06
Successful prenatal mannose treatment for congenital disorder of glycosylation-Ia in mice. Nat Med (2011) 1.06
Elevation of guanidinoacetate in newborn dried blood spots and impact of early treatment in GAMT deficiency. Mol Genet Metab (2013) 1.05
Palivizumab-resistant human respiratory syncytial virus infection in infancy. Clin Infect Dis (2010) 1.04
Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis. Orphanet J Rare Dis (2013) 1.04
Health implications of creatine: can oral creatine supplementation protect against neurological and atherosclerotic disease? Neuroscience (2002) 1.02
eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet (2003) 1.02
Initial evaluation of a biochemical cystic fibrosis newborn screening by sequential analysis of immunoreactive trypsinogen and pancreatitis-associated protein (IRT/PAP) as a strategy that does not involve DNA testing in a Northern European population. J Inherit Metab Dis (2010) 1.01
Three-dimensional observation of the conductive filament in nanoscaled resistive memory devices. Nano Lett (2014) 1.01
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
PRRT2 mutations are the major cause of benign familial infantile seizures. Hum Mutat (2012) 1.01
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem (2006) 1.01
Carnitine supplementation induces acylcarnitine production in tissues of very long-chain acyl-CoA dehydrogenase-deficient mice, without replenishing low free carnitine. Pediatr Res (2008) 1.01
Beta-carotene cleavage products after oxidation mediated by hypochlorous acid--a model for neutrophil-derived degradation. Free Radic Biol Med (2003) 1.00
Sepiapterin reductase deficiency: a treatable mimic of cerebral palsy. Ann Neurol (2012) 1.00
Methylmalonic acid, a biochemical hallmark of methylmalonic acidurias but no inhibitor of mitochondrial respiratory chain. J Biol Chem (2003) 0.99