Deafness after meningococcal meningitis.

Deafness after meningitis. Lancet (1992) 1.04

Deafness after meningococcal meningitis. Lancet (1992) 0.75

White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms. Neuropediatrics (2002) 2.10

Mild trimethylaminuria caused by common variants in FMO3 gene. Lancet (1999) 2.07

Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr (1997) 1.76

Evidence for impaired hepatic vitamin K1 metabolism in patients treated with N-methyl-thiotetrazole cephalosporins. Thromb Haemost (1984) 1.59

Simple and rapid detection of Candida albicans DNA in serum by PCR for diagnosis of invasive candidiasis. J Clin Microbiol (2000) 1.58

Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58

Identification and analysis of a new vacA genotype variant of Helicobacter pylori in different patient groups in Germany. J Clin Microbiol (1998) 1.51

Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics (1993) 1.49

Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet (1998) 1.43

Molecular probes for the detection of pathogenic fungi in the presence of human tissue. J Med Microbiol (1998) 1.38

Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest (1999) 1.35

Rapid presumptive identification of medically relevant yeasts to the species level by polymerase chain reaction and restriction enzyme analysis. J Med Vet Mycol (1994) 1.30

Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30

Characterization of contaminating DNA in Taq polymerase which occurs during amplification with a primer set for Legionella 5S ribosomal RNA. Mol Cell Probes (1994) 1.26

Detection of Legionella DNA in human and guinea pig urine samples by the polymerase chain reaction. Eur J Clin Microbiol Infect Dis (1995) 1.22

Diagnosis of mitochondrial trifunctional protein deficiency in a blood spot from the newborn screening card by tandem mass spectrometry and DNA analysis. Pediatr Res (1999) 1.21

Silent and symptomatic primary carnitine deficiency within the same family due to identical mutations in the organic cation/carnitine transporter OCTN2. J Inherit Metab Dis (2003) 1.17

Recommendations of the German Association for Medical Informatics, Biometry and Epidemiology for education and training in medical informatics. Methods Inf Med (1992) 1.16

Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant (1999) 1.16

Changes in blood carnitine and acylcarnitine profiles of very long-chain acyl-CoA dehydrogenase-deficient mice subjected to stress. Eur J Clin Invest (2004) 1.13

Prevention of bacterial colonization of intravenous catheters by antiseptic impregnation of polyurethane polymers. J Antimicrob Chemother (1994) 1.11

Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain (2001) 1.11

Progressive infantile neurodegeneration caused by 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency: a novel inborn error of branched-chain fatty acid and isoleucine metabolism. Pediatr Res (2000) 1.10

Evaluation of the detection of Borrelia burgdorferi DNA in urine samples by polymerase chain reaction. Infection (1996) 1.09

Comparison of polymerase chain reaction and conventional culture for the detection of legionellas in hospital water samples. J Appl Bacteriol (1994) 1.07

Long-term clinical outcome in patients with glutathione synthetase deficiency. J Pediatr (2001) 1.07

Improving treatment of guanidinoacetate methyltransferase deficiency: reduction of guanidinoacetic acid in body fluids by arginine restriction and ornithine supplementation. Mol Genet Metab (2001) 1.05

Congenital hyperinsulinism: molecular basis of a heterogeneous disease. Hum Mutat (1999) 1.04

Enzyme immunoassays for invasive Candida infections: reactivity of somatic antigens of Candida albicans. J Clin Microbiol (1991) 1.03

Mannose supplementation in carbohydrate-deficient glycoprotein syndrome type I and phosphomannomutase deficiency. Eur J Pediatr (1998) 1.03

Evidence for impaired gluconeogenesis in very long-chain acyl-CoA dehydrogenase-deficient mice. Horm Metab Res (2006) 1.02

Hyperinsulinism in syndromal disorders. Acta Paediatr (2001) 1.01

Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res (2000) 1.01

Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr (1997) 1.01

Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila) (2004) 0.99

Comparative evaluation of a commercial system for identification of gram-positive cocci. Eur J Clin Microbiol Infect Dis (1998) 0.99

Molecular and functional characterisation of mild MCAD deficiency. Hum Genet (2001) 0.99

The clinical manifestation of the kwashiorkor syndrome is related to increased lipid peroxidation. J Pediatr (1998) 0.99

Phosphomannomutase deficiency is the main cause of carbohydrate-deficient glycoprotein syndrome with type I isoelectrofocusing pattern of serum sialotransferrins. J Inherit Metab Dis (1997) 0.99

Severe neurological crisis in a patient with hereditary tyrosinaemia type I after interruption of NTBC treatment. J Inherit Metab Dis (2008) 0.99

Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed. J Inherit Metab Dis (2008) 0.98

Postnatal changes in neonatal acylcarnitine profile. Pediatr Res (2001) 0.98

Evaluation of eight antibody tests and one antigen test for the diagnosis of invasive aspergillosis. Mycoses (1996) 0.97

Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet (1998) 0.97

EVI-1 modulates leukemogenic potential and apoptosis sensitivity in human acute lymphoblastic leukemia. Leukemia (2012) 0.97

Haemagglutinins and adherence properties to HeLa and intestine 407 cells of Klebsiella pneumoniae and Klebsiella oxytoca isolates. Zentralbl Bakteriol Mikrobiol Hyg A (1987) 0.96

Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediatr (1998) 0.96

Retention of antibacterial activity and bacterial colonization of antiseptic-bonded central venous catheters. J Antimicrob Chemother (1996) 0.96

Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci (2001) 0.95

Spectrophotometric microassay for delta-aminolevulinate dehydratase in dried-blood spots as confirmation for hereditary tyrosinemia type I. Clin Chem (2001) 0.95

Neurological manifestations in lysosomal storage disorders - from pathology to first therapeutic possibilities. Neuropediatrics (2005) 0.95

[Systemic antibiotic prophylaxis in elective colon surgery. Results of a controlled study]. Chirurg (1981) 0.92

Prevalence of enteropathogenic and enterotoxigenic Escherichia coli in children with and without diarrhoea in Esteli, Nicaragua. J Diarrhoeal Dis Res (1993) 0.92

Cefotaxime versus penicillin in the late stage of Lyme disease--prospective, randomized therapeutic study. Infection (1990) 0.92

A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics (2001) 0.92

Clinical findings and a therapeutic trial in the first patient with beta-ureidopropionase deficiency. Neuropediatrics (2006) 0.91

Leucine and glucose kinetics in glycogen storage disease type IIIa. J Inherit Metab Dis (1997) 0.91

Clinical and biochemical effects of zileuton in patients with the Sjögren-Larsson syndrome. Eur J Pediatr (2001) 0.91

Cat scratch disease--heterogeneous in clinical presentation: five unusual cases of an infection caused by Bartonella henselae. Klin Padiatr (2009) 0.90

Comparative investigations of Klebsiella species of clinical origin: plasmid patterns, biochemical reactions, antibiotic resistances and serotypes. Zentralbl Bakteriol Mikrobiol Hyg A (1986) 0.90

Specific and rapid quantification of 8-iso-prostaglandin F2alpha in urine of healthy humans and patients with Zellweger syndrome by gas chromatography-tandem mass spectrometry. J Chromatogr B Biomed Sci Appl (1998) 0.90

Carnitine supplementation induces long-chain acylcarnitine production--studies in the VLCAD-deficient mouse. J Inherit Metab Dis (2006) 0.89

Epidemiology of meningococcal infections in the Federal Republic of Germany, 1966-1984. Zentralbl Bakteriol Mikrobiol Hyg A (1988) 0.89

An HPLC assay and a microbiological assay to determine levofloxacin in soft tissue, bone, bile and serum. J Pharm Biomed Anal (2001) 0.89

Molecular genetics of type 1 glycogen storage disease. Mol Genet Metab (2001) 0.89

Preterm birth in Sjögren-Larsson syndrome. Neuropediatrics (1999) 0.89

Novel missense mutations outside the allosteric domain of glutamate dehydrogenase are prevalent in European patients with the congenital hyperinsulinism-hyperammonemia syndrome. Hum Genet (2001) 0.88

Detection of endotoxins and other pyrogens using human whole blood. Dev Biol Stand (1999) 0.88

Acute neuronopathic Gaucher disease complicated by fatal gastrointestinal bleeding. Neuropediatrics (2006) 0.87

2-ketoglutarate dehydrogenase deficiency with intermittent 2-ketoglutaric aciduria. Neuropediatrics (2000) 0.87

Presymptomatic treatment of neonatal guanidinoacetate methyltransferase deficiency. Neurology (2006) 0.87

Influence of n-6 and n-3 polyunsaturated fatty acids on the resistance to experimental tuberculosis. Metabolism (1997) 0.87

Glucose and leucine kinetics in idiopathic ketotic hypoglycaemia. Arch Dis Child (2006) 0.87

3-Ureidopropionate contributes to the neuropathology of 3-ureidopropionase deficiency and severe propionic aciduria: a hypothesis. J Neurosci Res (2001) 0.86

Aplasia cutis congenita of the scalp: how much therapy is necessary in large defects? Acta Paediatr (2005) 0.86

Variation and adaptation of Pseudomonas aeruginosa toxicity to HeLa cells and fibroblasts. J Clin Microbiol (1986) 0.86

[Frequency of Aeromonas species in the stools of healthy and diarrheic patients]. Immun Infekt (1988) 0.86

Prevention of catheter-related infections by antiseptic bonding. J Surg Res (1993) 0.86

Biochemical and molecular studies in mild flavin monooxygenase 3 deficiency. J Inherit Metab Dis (2000) 0.86

Early clinical manifestation of glutaric aciduria type I and nephrotic syndrome during the first months of life. Acta Paediatr (1997) 0.86

In-use contamination of propofol. A clinical study. Eur J Anaesthesiol (1997) 0.85

Increased urinary excretion of dicarboxylic acids and 4-hydroxyphenyllactic acid in patients with Zellweger syndrome. Eur J Pediatr (1995) 0.85

Diagnostic difficulties in glucokinase hyperinsulinism. Horm Metab Res (2008) 0.85

Peroxisomal leukotriene degradation: biochemical and clinical implications. Adv Enzyme Regul (1993) 0.85

Tetrahydrobiopterin responsiveness in phenylketonuria differs between patients with the same genotype. Mol Genet Metab (2001) 0.84

Altered activity of the sympathetic nervous system and changes in the balance of hypophyseal, pituitary and adrenal hormones in patients with cluster headache. Neuroreport (1996) 0.84

Pseudotumor cerebri in childhood and adolescence -- results of a Germany-wide ESPED-survey. Klin Padiatr (2013) 0.84

[Lyme borreliosis in an endemic region in Europe. Prevalence of antibodies and clinical spectrum]. Dtsch Med Wochenschr (1992) 0.84

Influence of dietary (n-3)-polyunsaturated fatty acids on leukotriene B4 and prostaglandin E2 synthesis and course of experimental tuberculosis in guinea pigs. Infection (1994) 0.84

Exercise induced hypoglycaemic hyperinsulinism. Arch Dis Child (2001) 0.84

Severe hyperhomocysteinaemia and 5-oxoprolinuria secondary to antiproliferative and antimicrobial drug treatment. J Inherit Metab Dis (2005) 0.84

Mutation analysis in glycogen storage disease type 1 non-a. Hum Genet (2000) 0.83

[Controlled experimental histological and microbiological studies on the inhibitory effect of polyglycolic acid sutures in infections]. Chirurg (1980) 0.83

Treatment of ataxia in isolated vitamin E deficiency caused by alpha-tocopherol transfer protein deficiency. J Pediatr (1999) 0.83

Evaluation of the efficacy of surgical hand disinfection following a reduced application time of 3 instead of 5 min. J Hosp Infect (1992) 0.83

Massive insulin secretion in response to anaerobic exercise in exercise-induced hyperinsulinism. Horm Metab Res (2005) 0.83

[Directives for the testing and evaluation of chemical disinfection methods--1st part (1.1.1981). I. In vitro tests. II. Tests under medical practice conditions. 1. Hygienic hand disinfection. 2. Surgical hand disinfection]. Zentralbl Bakteriol Mikrobiol Hyg B (1981) 0.83

Tetrahydrobiopterin sensitivity in German patients with mild phenylalanine hydroxylase deficiency. Hum Mutat (2003) 0.82

Defective inactivation of leukotriene B4 in patients with Sjögren-Larsson syndrome. J Pediatr (2000) 0.82