Published in Acta Paediatr on June 01, 2009
Comparison and evaluation of methods for liver segmentation from CT datasets. IEEE Trans Med Imaging (2009) 3.03
Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med (2013) 2.99
Mutations in antiquitin in individuals with pyridoxine-dependent seizures. Nat Med (2006) 2.28
Tricuspid annular plane systolic excursion and right ventricular ejection fraction in pediatric and adolescent patients with tetralogy of Fallot, patients with atrial septal defect, and age-matched normal subjects. Clin Res Cardiol (2010) 2.26
Long-term follow-up of endurance and safety outcomes during enzyme replacement therapy for mucopolysaccharidosis VI: Final results of three clinical studies of recombinant human N-acetylgalactosamine 4-sulfatase. Mol Genet Metab (2008) 2.04
Enzyme replacement therapy in mucopolysaccharidosis VI (Maroteaux-Lamy syndrome). J Pediatr (2004) 1.94
De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat (2003) 1.89
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. J Med Genet (2012) 1.77
Neutrophils in Barth syndrome (BTHS) avidly bind annexin-V in the absence of apoptosis. Blood (2004) 1.65
Age-dependency of thrombin generation measured by means of calibrated automated thrombography (CAT). Thromb Haemost (2006) 1.64
Pyridoxine dependent epilepsy and antiquitin deficiency: clinical and molecular characteristics and recommendations for diagnosis, treatment and follow-up. Mol Genet Metab (2011) 1.61
Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. J Inherit Metab Dis (2012) 1.44
Reassessment of autoreactivity of the broadly neutralizing HIV antibodies 4E10 and 2F5 and retrospective analysis of clinical safety data. AIDS (2007) 1.44
Increased procoagulant function of microparticles in pediatric inflammatory bowel disease: role in increased thrombin generation. J Pediatr Gastroenterol Nutr (2013) 1.43
Effect of rivaroxaban, in contrast to heparin, is similar in neonatal and adult plasma. Blood Coagul Fibrinolysis (2011) 1.42
Segmentation of interwoven 3d tubular tree structures utilizing shape priors and graph cuts. Med Image Anal (2009) 1.38
Cyanosis in a male Nigerian infant with acute kidney injury: answers. Pediatr Nephrol (2013) 1.38
Cardiolipin deficiency in X-linked cardioskeletal myopathy and neutropenia (Barth syndrome, MIM 302060): a study in cultured skin fibroblasts. J Pediatr (2002) 1.27
A novel mutation of the RRM2B gene in an infant with early fatal encephalomyopathy, central hypomyelination, and tubulopathy. Mol Genet Metab (2009) 1.15
Status epilepticus in a neonate treated with pyridoxine because of a familial recurrence risk for antiquitin deficiency: pyridoxine toxicity? Dev Med Child Neurol (2011) 1.14
Liver segmentation in contrast enhanced CT data using graph cuts and interactive 3D segmentation refinement methods. Med Phys (2012) 1.11
Enzyme replacement therapy for mucopolysaccharidosis VI: Growth and pubertal development in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Pediatr Rehabil Med (2010) 1.11
Comprehensive mutation analysis of GLDC, AMT, and GCSH in nonketotic hyperglycinemia. Hum Mutat (2006) 1.09
Enzyme replacement therapy for mucopolysaccharidosis VI: evaluation of long-term pulmonary function in patients treated with recombinant human N-acetylgalactosamine 4-sulfatase. J Inherit Metab Dis (2010) 1.06
Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome. Brain (2014) 1.03
eIF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet (2003) 1.02
Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol (2009) 1.01
Mutation analysis in patients with N-acetylglutamate synthase deficiency. Hum Mutat (2003) 0.99
Hereditary spastic paraplegia 3A associated with axonal neuropathy. Arch Neurol (2007) 0.97
Insulin and hippocampus activation in response to images of high-calorie food in normal weight and obese adolescents. Obesity (Silver Spring) (2010) 0.96
Systolic right ventricular function in children and young adults with pulmonary artery hypertension secondary to congenital heart disease and tetralogy of Fallot: tricuspid annular plane systolic excursion (TAPSE) and magnetic resonance imaging data. Congenit Heart Dis (2012) 0.96
Metabolic epilepsies: approaches to a diagnostic challenge. Can J Neurol Sci (2009) 0.96
Traumatic unilateral facet dislocation of the lumbosacral junction. Injury (2004) 0.92
Systolic right ventricular function in pediatric and adolescent patients with tetralogy of Fallot: echocardiography versus magnetic resonance imaging. J Am Soc Echocardiogr (2010) 0.90
Cross-sectional observational study of 208 patients with non-classical urea cycle disorders. J Inherit Metab Dis (2013) 0.90
Urinary total globotriaosylceramide and isoforms to identify women with Fabry disease: a diagnostic test study. Am J Kidney Dis (2010) 0.90
Rapid determination of urinary globotriaosylceramide isoform profiles by electrospray ionization mass spectrometry using stearoyl-d35-globotriaosylceramide as internal standard. Rapid Commun Mass Spectrom (2005) 0.90
Thrombophilic polymorphisms--factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations--and preterm birth. Wien Klin Wochenschr (2004) 0.90
Transcatheter closure of an atrial septal defect in a newborn with aortic stenosis. Acta Paediatr (2008) 0.89
Calibrated automated thrombin generation in normal uncomplicated pregnancy. Thromb Haemost (2008) 0.89
Continuous renal replacement therapy with Prismaflex HF20 disposable set in children from 4 to 15 kg. ASAIO J (2011) 0.88
Tricuspid annular peak systolic velocity (S') in children and young adults with pulmonary artery hypertension secondary to congenital heart diseases, and in those with repaired tetralogy of Fallot: echocardiography and MRI data. J Am Soc Echocardiogr (2012) 0.88
GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. Hum Mutat (2009) 0.87
One-year safe use of the Prismaflex HF20(®) disposable set in infants in 220 renal replacement treatment sessions. Intensive Care Med (2011) 0.85
Thrombin receptor levels in platelet concentrates during storage and their impact on platelet functionality. Transfusion (2012) 0.85
Laryngo-tracheal profile: a new method for assessing laryngo-tracheal stenoses. Eur Arch Otorhinolaryngol (2006) 0.85
Biomechanics of the cricoarytenoid joint: three-dimensional imaging and vector analysis. J Voice (2010) 0.85
Alpha 2-macroglobulin enhances prothrombin activation and thrombin potential by inhibiting the anticoagulant protein C/protein S system in cord and adult plasma. Thromb Res (2002) 0.84
Model-based quantitative AAA image analysis using a priori knowledge. Comput Methods Programs Biomed (2005) 0.84
Hemodiafiltration in infants with complications during peritoneal dialysis. Artif Organs (2012) 0.83
Practical guidelines for the clinical use of plasma. Thromb Res (2002) 0.83
Thrombin generation in pediatric patients with Crohn's disease. Inflamm Bowel Dis (2011) 0.82
Two decades' experience of renal replacement therapy in paediatric patients with acute renal failure. Eur J Pediatr (2006) 0.82
The respective and combined anticoagulant effects of recombinant human activated protein C, melagatran and heparins using CAT. Thromb Res (2006) 0.81
Longitudinal systolic ventricular interaction in pediatric and young adult patients with TOF: a cardiac magnetic resonance and M-mode echocardiographic study. Int J Cardiovasc Imaging (2013) 0.81
Protein S modulates the anticoagulant action of recombinant human activated protein C: a comparison between neonates and adults. Br J Pharmacol (2005) 0.80
PFA-100 closure times in preoperative screening in 500 pediatric patients. Thromb Haemost (2007) 0.80
Fatal outcome of rhino-orbital-cerebral mucormycosis due to bilateral internal carotid occlusion in a child after hematopoietic stem cell transplantation. Pediatr Infect Dis J (2013) 0.79
The anticoagulant action of recombinant human activated protein C (rhAPC, Drotrecogin alpha activated): comparison between cord and adult plasma. Thromb Haemost (2004) 0.79
Three-dimensional imaging of the larynx for pre-operative planning of laryngeal framework surgery. Eur Arch Otorhinolaryngol (2009) 0.79
SNP array-based whole genome homozygosity mapping as the first step to a molecular diagnosis in patients with Charcot-Marie-Tooth disease. J Neurol (2011) 0.79
Phospholipid content, expression and support of thrombin generation of neonatal platelets. Acta Paediatr (2008) 0.79
Short-term intravenous fish-oil emulsions in pediatric oncologic patients--effect on liver parameters. Nutr Cancer (2014) 0.78
Effect of body position on ventilation distribution during PEEP titration in a porcine model of acute lung injury using advanced respiratory monitoring and electrical impedance tomography. Intensive Care Med Exp (2015) 0.77
Thrombin generation determined by calibrated automated thrombography (CAT) in pediatric patients with congenital heart disease. Thromb Res (2007) 0.77
Chromosomal integration of the HHV-6 genome as a possible cause of HHV-6 detection in cardiac tissues. J Clin Pathol (2010) 0.77
Thrombophilia and pregnancy complications. Thromb Haemost (2004) 0.77
Use of Suprathel dressing in a young infant with TEN. Pediatr Dermatol (2008) 0.77
Developing a 3D model of the laryngeal cartilages using HRCT data and MIMICS's segmentation software. Logoped Phoniatr Vocol (2010) 0.77
Unrelated CD3/CD19-depleted peripheral stem cell transplantation for Hurler syndrome. Pediatr Hematol Oncol (2014) 0.77
Higher concentrations of heparin and hirudin are required to inhibit thrombin generation in tissue factor-activated cord plasma than in adult plasma. Pediatr Res (2005) 0.77
Anticoagulant action of melagatran, the active form of the oral direct thrombin inhibitor ximelagatran, in umbilical cord and adult plasma: an in vitro examination. Thromb Res (2005) 0.77
Prostaglandin E2 levels and platelet function are different in cord blood compared to adults. Thromb Haemost (2014) 0.77
Additive effects of anticoagulants: recombinant human activated protein C and heparin or melagatran, in tissue factor-activated umbilical-cord plasma. Thromb Haemost (2005) 0.76
Aortic coarctation associated with alveolar capillary dysplasia and misalignment of the pulmonary veins. Pediatr Cardiol (2007) 0.76
Severe epstein-barr virus encephalitis with hemophagocytic syndrome: rapid clearance of virus following allogeneic hematopoietic stem cell transplantation from a seropositive donor. Pediatr Infect Dis J (2010) 0.76
Campylobacter jejuni infection associated with myopericarditis in adolescents: report of two cases. Eur J Pediatr (2009) 0.76
Spectrum of causative mutations in patients with haemophilia A in Austria. Thromb Haemost (2010) 0.76
Increased shear stress- and ristocetin-induced binding of von Willebrand factor to platelets in cord compared with adult plasma. Thromb Haemost (2004) 0.76
Microparticles in newborn cord blood: slight elevation after normal delivery. Thromb Res (2011) 0.76
Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep (2014) 0.75
Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. Eur J Hum Genet (2015) 0.75
Differentiating inherited human herpesvirus type 6 genome from primary human herpesvirus type 6 infection by means of dried blood spot from the newborn screening card. J Pediatr (2011) 0.75
Invited commentary. Ann Thorac Surg (2006) 0.75
Cyanosis in a male Nigerian infant with acute kidney injury: questions. Pediatr Nephrol (2013) 0.75
Recombinant human activated protein C, heparin and melagatran in umbilical cord versus adult plasma. Acta Paediatr (2005) 0.75
Pediatric patients with congenital heart disease: thrombin generation measured by calibrated automated thrombography. Blood Coagul Fibrinolysis (2008) 0.75
Anticoagulant action of melagatran: a comparison between neonates and adults using calibrated automated thrombography (CAT). Eur J Pediatr (2006) 0.75
Cardiac catheterization: haemostatic changes in pediatric versus adult patients. J Thromb Thrombolysis (2011) 0.75
Austrian Hemophilia Registry: design, development and set of variables. Wien Klin Wochenschr (2009) 0.75
Monitoring of antibiotic resistance rates of Helicobacter pylori in Austrian children, 2002-2009. Pediatr Infect Dis J (2012) 0.75
Frequency and significance of lumbar and inferior mesenteric artery perfusion after endovascular repair of abdominal aortic aneurysms. J Endovasc Ther (2004) 0.75
Fractures and dislocations of the foot in children. Clin Podiatr Med Surg (2006) 0.75
Late development of a large intrahepatic fistula after "closure" of an atrial septal defect. J Thorac Cardiovasc Surg (2009) 0.75
An evaluation of the procoagulant action of recombinant activated factor VII in cord whole blood versus adult whole blood using thromboelastography. Blood Coagul Fibrinolysis (2005) 0.75
Automatic detection and characterization of funnel chest based on spiral CT. J Xray Sci Technol (2010) 0.75
Drotrecogin alfa (activated, Xigris) in combination with heparin or melagatran: an in vitro investigation. J Thromb Thrombolysis (2004) 0.75
Pulmonary valve replacement with mechanical prostheses in re-do Fallot patients. Interact Cardiovasc Thorac Surg (2011) 0.75
Giant Pelvic Cyst in 16-Year-Old Boy With Bloody Diarrhea: Atypical Presentation of Colonic Adenocarcinoma. J Pediatr Gastroenterol Nutr (2017) 0.75