Published in Eur J Neurosci on June 01, 2001
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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
Neuroprotection by estrogens in a mouse model of focal cerebral ischemia and in cultured neurons: evidence for a receptor-independent antioxidative mechanism. J Cereb Blood Flow Metab (1999) 1.16
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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
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Clinical, biochemical and molecular genetic characteristics of 19 patients with the Sjögren-Larsson syndrome. Brain (2001) 1.11
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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
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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
PTEN: a crucial mediator of mitochondria-dependent apoptosis. Apoptosis (2006) 1.06
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
Neuroprotection mediated via neurotrophic factors and induction of neurotrophic factors. Brain Res Brain Res Rev (1999) 1.04
Influence of flupirtine on a G-protein coupled inwardly rectifying potassium current in hippocampal neurones. Br J Pharmacol (1997) 1.04
Congenital hyperinsulinism: molecular basis of a heterogeneous disease. Hum Mutat (1999) 1.04
Inhibition of serum deprivation- and staurosporine-induced neuronal apoptosis by Ginkgo biloba extract and some of its constituents. Eur J Pharmacol (1999) 1.03
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
Phenylketonuria mutations in Germany. Hum Genet (1999) 1.01
Persistent hyperinsulinaemic hypoglycaemia of infancy: therapy, clinical outcome and mutational analysis. Eur J Pediatr (1997) 1.01
S-100beta protects cultured neurons against glutamate- and staurosporine-induced damage and is involved in the antiapoptotic action of the 5 HT(1A)-receptor agonist, Bay x 3702. Brain Res (2000) 1.00
Erythropoietic and hepatic porphyrias. J Inherit Metab Dis (2000) 1.00
Propionic acidemia revisited: a workshop report. Clin Pediatr (Phila) (2004) 0.99
Preconditioning-induced neuroprotection is mediated by reactive oxygen species and activation of the transcription factor nuclear factor-kappaB. J Neurochem (2001) 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
The clinical manifestation of the kwashiorkor syndrome is related to increased lipid peroxidation. J Pediatr (1998) 0.99
Molecular and functional characterisation of mild MCAD deficiency. Hum Genet (2001) 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
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Deletion of a single mevalonate kinase (Mvk) allele yields a murine model of hyper-IgD syndrome. J Inherit Metab Dis (2007) 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
Pharmacological studies supporting the therapeutic use of Ginkgo biloba extract for Alzheimer's disease. Pharmacopsychiatry (2003) 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
Unsaturated fatty acids isolated from human lipoproteins activate protein phosphatase type 2Cbeta and induce apoptosis in endothelial cells. Atherosclerosis (2005) 0.97
Effects of ascorbic acid and low-protein diet in alkaptonuria. Eur J Pediatr (1998) 0.96
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
NMDA-induced superoxide production and neurotoxicity in cultured rat hippocampal neurons: role of mitochondria. Eur J Neurosci (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