Published in Epileptic Disord on March 01, 2005
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A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins. Am J Hum Genet (2011) 1.57
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Clinical and nutritional evaluation of phenylketonuric patients on tetrahydrobiopterin monotherapy. Mol Genet Metab (2005) 1.08
School performance in early and continuously treated phenylketonuria. Pediatr Neurol (2005) 1.05
Creatine transporter deficiency: prevalence among patients with mental retardation and pitfalls in metabolite screening. Clin Biochem (2007) 1.05
HPLC with electrochemical and fluorescence detection procedures for the diagnosis of inborn errors of biogenic amines and pterins. J Neurosci Methods (2005) 1.03
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Taurine detection by proton magnetic resonance spectroscopy in medulloblastoma: contribution to noninvasive differential diagnosis with cerebellar astrocytoma. Neurosurgery (2004) 0.97
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Impaired complex I assembly in a Leigh syndrome patient with a novel missense mutation in the ND6 gene. Ann Neurol (2003) 0.88
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Paroxysmal exercise-induced dyskinesia, writer's cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J Neurol Sci (2010) 0.87
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Is deoxypyridinoline a good resorption marker to detect osteopenia in phenylketonuria? Clin Biochem (2005) 0.86
Biochemical diagnosis of dopaminergic disturbances in paediatric patients: analysis of cerebrospinal fluid homovanillic acid and other biogenic amines. Clin Biochem (2008) 0.85
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC). Mol Genet Metab (2010) 0.84
Tetrahydrobiopterin responsiveness in patients with phenylketonuria. Clin Biochem (2004) 0.83
Defining the pathogenicity of creatine deficiency syndrome. Hum Mutat (2011) 0.83
White matter alterations associated with chromosomal disorders. Dev Med Child Neurol (2004) 0.83
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A homozygous tyrosine hydroxylase gene promoter mutation in a patient with dopa-responsive encephalopathy: clinical, biochemical and genetic analysis. Mol Genet Metab (2007) 0.82
Cranial ultrasound and chronological changes in molybdenum cofactor deficiency. Pediatr Radiol (2007) 0.82
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Long-chain polyunsaturated fatty acid status in phenylketonuric patients treated with tetrahydrobiopterin. Clin Biochem (2009) 0.81
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Novel features in the evolution of adenylosuccinate lyase deficiency. Eur J Paediatr Neurol (2011) 0.80
Cognitive functions and the antioxidant system in phenylketonuric patients. Neuropsychology (2008) 0.80
TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment. Brain Dev (2011) 0.80
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Identifying the cortical substrates of interictal epileptiform activity in patients with extratemporal epilepsy: An EEG-fMRI sequential analysis and FDG-PET study. Epilepsia (2013) 0.79
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Lipophilic antioxidants in patients with phenylketonuria. Am J Clin Nutr (2003) 0.79
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Ubiquinone-10 content in lymphocytes of phenylketonuric patients. Clin Biochem (2002) 0.78
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The monitoring of trace elements in blood samples from patients with inborn errors of metabolism. J Inherit Metab Dis (2010) 0.78
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Brain injury in glutaric aciduria type I: the value of functional techniques in magnetic resonance imaging. Eur J Paediatr Neurol (2009) 0.78
A longitudinal study of antioxidant status in phenylketonuric patients. Clin Biochem (2004) 0.78
Deletion in the tyrosine hydroxylase gene in a patient with a mild phenotype. Mov Disord (2011) 0.77
Epstein-Barr virus related opsoclonus-myoclonus-ataxia does not rule out the presence of occult neuroblastic tumors. Pediatr Blood Cancer (2006) 0.77
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type I. Pediatr Neurol (2009) 0.76
Cerebellar hemorrhage in a patient with propionic acidemia. Cerebellum (2009) 0.75
Hurler's syndrome, West's syndrome, and vitamin D-dependent rickets. J Child Neurol (2002) 0.75
Folate analysis for the differential diagnosis of profound cerebrospinal fluid folate deficiency. Clin Biochem (2011) 0.75
Glycine and L-arginine treatment causes hyperhomocysteinemia in cerebral creatine transporter deficiency patients. JIMD Rep (2011) 0.75
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Characterization of tremor in phenylketonuric patients. J Neurol (2005) 0.75
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Undetectable levels of CSF amyloid-β peptide in a patient with 17β-hydroxysteroid dehydrogenase deficiency. J Alzheimers Dis (2011) 0.75
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