Published in Pediatr Res on February 01, 2003
Stroke magnetic resonance imaging is accurate in hyperacute intracerebral hemorrhage: a multicenter study on the validity of stroke imaging. Stroke (2004) 3.07
Natural history, outcome, and treatment efficacy in children and adults with glutaryl-CoA dehydrogenase deficiency. Pediatr Res (2006) 2.31
Symptomatic acute occlusion of the internal carotid artery: reappraisal of urgent vascular reconstruction based on current stroke imaging. J Vasc Surg (2008) 2.11
Homocysteine-betaine interactions in a murine model of 5,10-methylenetetrahydrofolate reductase deficiency. FASEB J (2003) 1.59
Transient ischemic attacks before ischemic stroke: preconditioning the human brain? A multicenter magnetic resonance imaging study. Stroke (2004) 1.58
Low bone mass in glycogen storage disease type 1 is associated with reduced muscle force and poor metabolic control. J Pediatr (2002) 1.50
Evaluation of quality of life and description of the sociodemographic state in adolescent and young adult patients with phenylketonuria (PKU). Health Qual Life Outcomes (2008) 1.45
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
MS/MS-based newborn and family screening detects asymptomatic patients with very-long-chain acyl-CoA dehydrogenase deficiency. J Pediatr (2003) 1.33
Pitfalls of neonatal screening for very-long-chain acyl-CoA dehydrogenase deficiency using tandem mass spectrometry. J Pediatr (2006) 1.33
Outcome and long-term follow-up of 36 patients with tetrahydrobiopterin deficiency. Mol Genet Metab (2007) 1.28
Cerebrospinal fluid of brain trauma patients inhibits in vitro neuronal network function via NMDA receptors. Ann Neurol (2009) 1.24
Cerebrospinal fluid HIV viral load in different phases of HIV-associated brain disease. J Neurol (2005) 1.17
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
Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. Brain (2008) 1.13
Long-term follow-up of 114 patients with congenital hyperinsulinism. Eur J Endocrinol (2003) 1.12
Development of brain infarct volume as assessed by magnetic resonance imaging (MRI): follow-up of diffusion-weighted MRI lesions. J Magn Reson Imaging (2004) 1.12
Clinical and neurocognitive outcome in symptomatic isovaleric acidemia. Orphanet J Rare Dis (2012) 1.10
A non-enzymatic function of 17beta-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival. EMBO Mol Med (2010) 1.09
Impact of longitudinal plasma leucine levels on the intellectual outcome in patients with classic MSUD. Pediatr Res (2005) 1.05
Iron oxide particle-enhanced MRI suggests variability of brain inflammation at early stages after ischemic stroke. Stroke (2007) 1.03
Consensus guidelines for management of glycogen storage disease type 1b - European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Granulocyte colony-stimulating factor in glycogen storage disease type 1b. Results of the European Study on Glycogen Storage Disease Type 1. Eur J Pediatr (2002) 1.02
Development and pharmacological modulation of embryonic stem cell-derived neuronal network activity. Exp Neurol (2007) 1.02
Tissue carnitine homeostasis in very-long-chain acyl-CoA dehydrogenase-deficient mice. Pediatr Res (2005) 1.01
Newborn screening for hepatorenal tyrosinemia: Tandem mass spectrometric quantification of succinylacetone. Clin Chem (2006) 1.01
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease. Hum Mutat (2003) 1.00
Psychomotor slowing in hepatitis C and HIV infection. J Acquir Immune Defic Syndr (2004) 0.99
Niche-dependent development of functional neuronal networks from embryonic stem cell-derived neural populations. BMC Neurosci (2009) 0.98
CCSVI and MS: a statement from the European Society of neurosonology and cerebral hemodynamics. J Neurol (2012) 0.97
HIV Dementia Scale and psychomotor slowing--the best methods in screening for neuro-AIDS. J Neuropsychiatry Clin Neurosci (2005) 0.97
Cyclic AMP and tumor necrosis factor-alpha regulate CXCR4 gene expression in Schwann cells. Mol Cell Neurosci (2003) 0.95
Cryopreserved rat cortical cells develop functional neuronal networks on microelectrode arrays. J Neurosci Methods (2003) 0.94
MR imaging in acute stroke: diffusion-weighted and perfusion imaging parameters for predicting infarct size. Radiology (2002) 0.93
Safety and efficacy of 22 weeks of treatment with sapropterin dihydrochloride in patients with phenylketonuria. Am J Med Genet A (2008) 0.93
Longitudinal assessment of intellectual achievement in patients with classical galactosemia. Pediatrics (2010) 0.91
Differential glycomics of epithelial membrane glycoproteins from urinary exovesicles reveals shifts toward complex-type N-glycosylation in classical galactosemia. J Proteome Res (2011) 0.89
Thrombolysis with recombinant tissue plasminogen activator and tirofiban in stroke: preliminary observations. Stroke (2003) 0.89
Cerebral microembolism is blocked by tirofiban, a selective nonpeptide platelet glycoprotein IIb/IIIa receptor antagonist. Circulation (2003) 0.88
Evaluation of multiple-session delay eyeblink conditioning comparing patients with focal cerebellar lesions and cerebellar degeneration. Behav Brain Res (2010) 0.88
Pharmacokinetics of oral betaine in healthy subjects and patients with homocystinuria. Br J Clin Pharmacol (2003) 0.88
P2Y receptor-mediated excitation in the posterior hypothalamus. Eur J Neurosci (2006) 0.87
Platelet GPIIb/IIIa receptor antagonists in human ischemic brain disease. Curr Vasc Pharmacol (2008) 0.87
The muscle-bone relationship: methods and management - perspectives in glycogen storage disease. Eur J Pediatr (2002) 0.86
Significance of the perfusion-diffusion mismatch in chronic cerebral ischemia. J Magn Reson Imaging (2006) 0.85
Diffusion-weighted imaging in acute stroke--a tool of uncertain value? Cerebrovasc Dis (2002) 0.85
A woman with untreated galactosaemia. Lancet (2003) 0.85
Maple syrup urine disease-treatment and outcome in patients of Turkish descent in Germany. Turk J Pediatr (2005) 0.84
Lesion patterns in successful and failed thrombolysis in middle cerebral artery stroke. Neuroradiology (2009) 0.84
Initial ischemic event: perfusion-weighted MR imaging and apparent diffusion coefficient for stroke evolution. Radiology (2005) 0.84
Deficient alpha-galactosidase A activity in plasma but no Fabry disease--a pitfall in diagnosis. Clin Chem Lab Med (2005) 0.84
The effect of short-term dimethylglycine treatment on oxygen consumption in cytochrome oxidase deficiency: a double-blind randomized crossover clinical trial. J Pediatr (2003) 0.84
Storage of a naturally acquired conditioned response is impaired in patients with cerebellar degeneration. Brain (2013) 0.83
Effects of betaine in a murine model of mild cystathionine-beta-synthase deficiency. Metabolism (2004) 0.83
Long-term safety and efficacy of NNRTI within the central nervous system. HIV Clin Trials (2003) 0.83
Microalbuminuria indicates long-term vascular risk in patients after acute stroke undergoing in-patient rehabilitation. BMC Neurol (2012) 0.83
Subcutaneous self-infusions of immunoglobulins as a potential therapeutic regimen in immune-mediated neuropathies. J Neurol (2006) 0.82
Transient reduction of spontaneous neuronal network activity by sublethal amyloid beta (1-42) peptide concentrations. J Neural Transm (Vienna) (2009) 0.82
Therapeutic effects of nonnucleoside reverse transcriptase inhibitors on the central nervous system in HIV-1-infected patients. J Acquir Immune Defic Syndr (2002) 0.82
Age dependence of endogenous galactose formation in Q188R homozygous galactosemic patients. Mol Genet Metab (2004) 0.81
Virtual arterial endoscopy as a diagnostic aid in a patient with basilar artery fenestration and thromboembolic pontine infarct. AJNR Am J Neuroradiol (2002) 0.81
Failed recovery from thrombolysis is predicted by the initial diffusion weighted imaging lesion. Cerebrovasc Dis (2011) 0.81
Molecular genetics of maple syrup urine disease in the Turkish population. Turk J Pediatr (2009) 0.81
Systemic thrombolysis with recombinant tissue plasminogen activator and tirofiban in acute middle cerebral artery occlusion. Stroke (2004) 0.80
[Situation of adult patients with inborn errors of metabolism. A survey in Germany]. Med Klin (Munich) (2005) 0.80
Clinical and molecular characterization of five patients with succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency. Biochim Biophys Acta (2011) 0.80
Implications for hyperhomocysteinemia: not homocysteine but its oxidized forms strongly inhibit neuronal network activity. J Neurol Sci (2004) 0.80
Endogenous galactose formation in galactose-1-phosphate uridyltransferase deficiency. Arch Physiol Biochem (2014) 0.79
Type I glycogen storage disease: favourable outcome on a strict management regimen avoiding increased lactate production during childhood and adolescence. Eur J Pediatr (2002) 0.79
Multielectrode array analysis of cerebrospinal fluid in Alzheimer's disease versus mild cognitive impairment: a potential diagnostic and treatment biomarker. Biochem Biophys Res Commun (2013) 0.79
Vascular risk prediction in ischemic stroke patients undergoing in-patient rehabilitation - insights from the investigation of patients with ischemic stroke in neurologic rehabilitation (INSIGHT) registry. Int J Stroke (2012) 0.79
Biochemical monitoring of pregnancy and breast feeding in five patients with classical galactosaemia--and review of the literature. Eur J Pediatr (2008) 0.78
Structural correlates of motor adaptation deficits in patients with acute focal lesions of the cerebellum. Exp Brain Res (2014) 0.78
Variable platelet response to aspirin in patients with ischemic stroke. Cerebrovasc Dis (2007) 0.78
Speed of sound: relation to geometric characteristics of bone in children, adolescents, and adults. J Pediatr (2005) 0.78
Cross-sectional analysis of speech and cognitive performance in 32 patients with classic galactosemia. J Inherit Metab Dis (2011) 0.78
Time is brain?--Surgical revascularization of acute symptomatic occlusion of the internal carotid artery up to one week. Ann Vasc Surg (2013) 0.78
Cystic renal dysplasia as a leading sign of inherited metabolic disease. Pediatr Nephrol (2007) 0.78
Neuronal network properties of human teratocarcinoma cell line-derived neurons. Brain Res (2004) 0.77
Galactonate determination in urine by stable isotope dilution gas chromatography-mass spectrometry. J Chromatogr B Analyt Technol Biomed Life Sci (2004) 0.77
Glycogen storage disease type Ib without hypoglycemia. Mol Genet Metab (2006) 0.77
Porcine choroid plexus epithelial cells induce Streptococcus suis bacteriostasis in vitro. Infect Immun (2004) 0.77
Aldolase C/zebrin II is released to the extracellular space after stroke and inhibits the network activity of cortical neurons. Neurochem Res (2006) 0.76
Cerebellar infarction after gamma knife radiosurgery of a vestibular schwannoma. Neurology (2007) 0.76
Persistent organic personality change as rare psychiatric manifestation of MELAS syndrome. J Neurol (2003) 0.76
[Inborn errors of metabolism (IEM) in adults. A new challenge to internal medicine]. Med Klin (Munich) (2005) 0.75
Stable-isotope dilution analysis of galactose metabolites in human erythrocytes. Rapid Commun Mass Spectrom (2003) 0.75
Serum and cerebrospinal fluid levels of interleukin-18 in human immunodeficiency virus type 1-associated central nervous system disease. J Neurovirol (2004) 0.75
Outcome after systemic thrombolysis is predicted by age and stroke severity: an open label experience with recombinant tissue plasminogen activator and tirofiban. Neurol Int (2012) 0.75
Maple syrup urine disease: newborn screening fails to discriminate between classic and variant forms. Clin Chem (2008) 0.75
Detection of microembolic signals with transcranial Doppler ultrasound. Front Neurol Neurosci (2006) 0.75
Urinary excretion of pentose phosphate pathway-associated polyols in early postnatal life. Neonatology (2008) 0.75
Partial rescue of the perfusion deficit area by thrombolysis. J Magn Reson Imaging (2005) 0.75