Published in Eur J Pediatr on September 01, 1995
Activation of a G protein-coupled receptor by its endogenous ligand triggers the innate immune response of Caenorhabditis elegans. Nat Immunol (2014) 1.69
Mechanisms of innate immunity in C. elegans epidermis. Tissue Barriers (2015) 0.78
Accumulated Metabolites of Hydroxybutyric Acid Serve as Diagnostic and Prognostic Biomarkers of Ovarian High-Grade Serous Carcinomas. Cancer Res (2015) 0.76
Stereoselective analysis of 2-hydroxysebacic acid in urine of patients with Zellweger syndrome and of premature infants fed with medium-chain triglycerides. J Inherit Metab Dis (2003) 0.75
Leukotrienes in the pathophysiology of kwashiorkor. Lancet (1993) 3.14
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
Deafness after meningococcal meningitis. Lancet (1991) 1.98
Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency. Neurology (2010) 1.88
A European multicenter study of phenylalanine hydroxylase deficiency: classification of 105 mutations and a general system for genotype-based prediction of metabolic phenotype. Am J Hum Genet (1998) 1.78
Creatine deficiency syndrome caused by guanidinoacetate methyltransferase deficiency: diagnostic tools for a new inborn error of metabolism. J Pediatr (1997) 1.76
Screening for defects of branched-chain amino acid metabolism. Eur J Pediatr (1994) 1.67
Mutational spectrum in the Delta7-sterol reductase gene and genotype-phenotype correlation in 84 patients with Smith-Lemli-Opitz syndrome. Am J Hum Genet (2000) 1.61
Treatment recommendations in long-chain fatty acid oxidation defects: consensus from a workshop. J Inherit Metab Dis (2009) 1.58
Tetrahydrobiopterin deficiency in human rabies. J Inherit Metab Dis (2008) 1.56
Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics (1993) 1.49
Tyrosine hydroxylase deficiency with severe clinical course: clinical and biochemical investigations and optimization of therapy. J Pediatr (2000) 1.45
Hydrocephalus internus in two patients with 5,10-methylenetetrahydrofolate reductase deficiency. Neuropediatrics (2000) 1.44
Mutation and polymorphism analysis of the human homogentisate 1, 2-dioxygenase gene in alkaptonuria patients. Am J Hum Genet (1998) 1.43
Abuse or metabolic disorder? Arch Dis Child (1998) 1.42
D-2-Hydroxyglutaric aciduria: biochemical marker or clinical disease entity? Ann Neurol (1999) 1.41
Neonatal screening for glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 1.41
4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolism. Neuropediatrics (1998) 1.37
Large neutral amino acids block phenylalanine transport into brain tissue in patients with phenylketonuria. J Clin Invest (1999) 1.35
Guideline for the diagnosis and management of glutaryl-CoA dehydrogenase deficiency (glutaric aciduria type I). J Inherit Metab Dis (2007) 1.31
Management and outcome in 75 individuals with long-chain fatty acid oxidation defects: results from a workshop. J Inherit Metab Dis (2009) 1.30
Leukoencephalopathy with ataxia, hypodontia, and hypomyelination. Neurology (2005) 1.26
Mutation analysis in glutaric aciduria type I. J Med Genet (2000) 1.23
Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach. J Inherit Metab Dis (2007) 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
Effects of cholesterol and simvastatin treatment in patients with Smith-Lemli-Opitz syndrome (SLOS). J Inherit Metab Dis (2007) 1.20
High prevalence of vitamin D deficiency in young children in a highly sunny humid country: a global health problem. Minerva Pediatr (2009) 1.19
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
Dialysis in neonates with inborn errors of metabolism. Nephrol Dial Transplant (1999) 1.16
L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol (1992) 1.16
Diagnosis and management of glutaric aciduria type I. J Inherit Metab Dis (1998) 1.15
Acrodermatitis acidemica secondary to malnutrition in glutaric aciduria type I. Eur J Dermatol (2001) 1.14
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
Pyridoxal phosphate-dependent neonatal epileptic encephalopathy. Arch Dis Child Fetal Neonatal Ed (2008) 1.12
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
Frequency gradients of DHCR7 mutations in patients with Smith-Lemli-Opitz syndrome in Europe: evidence for different origins of common mutations. Eur J Hum Genet (2001) 1.09
Biochemical hallmarks of tyrosine hydroxylase deficiency. Clin Chem (1998) 1.09
Glutaric aciduria type 1 (glutaryl-CoA-dehydrogenase deficiency): advances and unanswered questions. Report from an international meeting. Eur J Pediatr (1997) 1.08
Enzymatic and metabolic evidence for a region specific mitochondrial dysfunction in brains of murine succinic semialdehyde dehydrogenase deficiency (Aldh5a1-/- mice). Neurochem Int (2007) 1.08
Leukotrienes: biosynthesis, metabolism, and pathophysiologic significance. Pediatr Res (1995) 1.08
Sensitivity and specificity of free and total glutaric acid and 3-hydroxyglutaric acid measurements by stable-isotope dilution assays for the diagnosis of glutaric aciduria type I. J Inherit Metab Dis (1999) 1.08
Aromatic L-amino acid decarboxylase deficiency: clinical features, drug therapy and follow-up. J Inherit Metab Dis (2009) 1.08
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
Implementation of extended neonatal screening and a metabolic unit in the State of Qatar: developing and optimizing strategies in cooperation with the Neonatal Screening Center in Heidelberg. J Inherit Metab Dis (2007) 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
Glucose-6-phosphatase mutation G188R confers an atypical glycogen storage disease type 1b phenotype. Pediatr Res (2000) 1.01
Hyperinsulinism in syndromal disorders. Acta Paediatr (2001) 1.01
Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr (1997) 1.01
Phenylketonuria mutations in Germany. Hum Genet (1999) 1.01
Erythropoietic and hepatic porphyrias. J Inherit Metab Dis (2000) 1.00
Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila) (2004) 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
Stable-isotope dilution analysis of D- and L-2-hydroxyglutaric acid: application to the detection and prenatal diagnosis of D- and L-2-hydroxyglutaric acidemias. Pediatr Res (1993) 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
Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis (2007) 0.98
Molecular cloning of human phosphomevalonate kinase and identification of a consensus peroxisomal targeting sequence. J Biol Chem (1996) 0.98
Postnatal changes in neonatal acylcarnitine profile. Pediatr Res (2001) 0.98
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene. Hum Genet (1998) 0.97
Neonatal screening for glutaric aciduria type I: strategies to proceed. J Inherit Metab Dis (2006) 0.97
A branch site mutation leading to aberrant splicing of the human tyrosine hydroxylase gene in a child with a severe extrapyramidal movement disorder. Ann Hum Genet (2000) 0.97
Identification of a mutation cluster in mevalonate kinase deficiency, including a new mutation in a patient of Mennonite ancestry. Am J Hum Genet (1999) 0.96
Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediatr (1998) 0.96
Comprehensive analysis of pyrimidine metabolism in 450 children with unspecific neurological symptoms using high-pressure liquid chromatography-electrospray ionization tandem mass spectrometry. J Inherit Metab Dis (2005) 0.96
A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy. J Inherit Metab Dis (2002) 0.96
Large heterozygous deletion masquerading as homozygous missense mutation: a pitfall in diagnostic mutation analysis. J Inherit Metab Dis (1999) 0.95
Defective metabolism of leukotriene B4 in the Sjögren-Larsson syndrome. J Neurol Sci (2001) 0.95
Aromatic L-amino acid decarboxylase deficiency with hyperdopaminuria. Clinical and laboratory findings in response to different therapies. Neuropediatrics (2002) 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
Infantile Parkinsonism-dystonia and elevated dopamine metabolites in CSF. Neurology (2004) 0.94
Inborn errors of metabolism and motor disturbances in children. J Inherit Metab Dis (2009) 0.94
Recurrent acute liver failure and mitochondriopathy in a case of Wolcott-Rallison syndrome. J Inherit Metab Dis (2008) 0.94
Maintenance treatment of glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.93
Pathogenesis of CNS involvement in disorders of amino and organic acid metabolism. J Inherit Metab Dis (2008) 0.92
Excitotoxicity and bioenergetics in glutaryl-CoA dehydrogenase deficiency. J Inherit Metab Dis (2004) 0.92
A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations. Neuropediatrics (2001) 0.92
Expanded newborn screening in Europe 2007. J Inherit Metab Dis (2007) 0.92
Newborn screening for methylmalonic acidurias--optimization by statistical parameter combination. J Inherit Metab Dis (2008) 0.92
L-2-hydroxyglutaric acidaemia: clinical and biochemical findings in 12 patients and preliminary report on L-2-hydroxyacid dehydrogenase. J Inherit Metab Dis (1993) 0.91
Dihydropyrimidinase deficiency and congenital microvillous atrophy: coincidence or genetic relation? J Inherit Metab Dis (1997) 0.91
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
Glutaric aciduria and suspected child abuse. Arch Dis Child (1999) 0.91