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A KCNQ2 splice site mutation causing benign neonatal convulsions in a Scottish familyCombined D-2- and L-2-hydroxyglutaric aciduria with neonatal onset encephalopathy: a third biochemical variant of 2-hydroxyglutaric aciduria?A novel mutation in neonatal isolated sulphite oxidase deficiencyScreening for adenylosuccinate lyase deficiency: clinical, biochemical and molecular findings in four patientsDutch patients with progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO) syndromeHeterozygosity for the "DN allele" (G533-greater than A) of the beta-hexosaminidase alpha subunit gene identified by direct DNA sequencing in a family with the B1 variant of GM2-gangliosidosisOptic atrophy as the presenting sign in Hallervorden-Spatz syndromeEthylmalonic encephalopathy: clinical and biochemical observationsExpression of laminin chains in skin in merosin-deficient congenital muscular dystrophy4-Hydroxybutyric acid and the clinical phenotype of succinic semialdehyde dehydrogenase deficiency, an inborn error of GABA metabolismCarbohydrate-deficient glycoprotein syndrome--a fourth subtypeLissencephaly and other malformations of cortical development: 1995 updateAlternating hemiplegia of childhood: no mutations in the second familial hemiplegic migraine gene ATP1A2Studies on a case of HHH-syndrome (hyperammonemia, hyperornithinemia, homocitrullinuria)Successful carnitine treatment in two siblings having lipid storage myopathy with hypertrophic cardiomyopathyTheophylline and status epilepticus in childrenAnalysis of very long-chain fatty acids and plasmalogen in the erythrocyte membrane: a simple method for the detection of peroxisomal disorders and discrimination between adrenoleukodystrophy and Zellweger syndromeInfantile spasms associated with a histamine H1 antagonistIn-utero and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids does not alter the clinical or pathological courseFebrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis.Association between VANGL1 gene polymorphisms and neural tube defects.Brain magnetic resonance imaging in acute phase of pandemic influenza A (H1N1) 2009--associated encephalopathy in children.Narcolepsy during Childhood: An Update.Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein.Attenuated adenylosuccinate lyase deficiency: a report of one case and a review of the literature.Functional magnetic resonance imaging in pediatrics.Changes in cerebral white matter in a case of congenital muscular dystrophy (non-Fukuyama type).Benign hereditary non-progressive chorea of early onset. Clinical genetics of the syndrome and report of a new family.X-Linked adrenoleukodystrophy: overview and prognosis as a function of age and brain magnetic resonance imaging abnormality. A study involving 372 patients.Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.Brain development (sulci and gyri) as assessed by early postnatal MR imaging in preterm and term newborn infants.Progressive multifocal leukoencephalopathy in a child with hyperimmunoglobulin E recurrent infection syndrome and review of the literature.Low-dose cisplatin-etoposide regimen for patients with optic pathway glioma: a report of four cases and literature review.Christianson syndrome: spectrum of neuroimaging findings.White matter disease in cerebral organic acid disorders: clinical implications and suggested pathomechanisms.Epilepsy surgery outcome in children with focal epilepsy due to tuberous sclerosis complex.Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.Diffusion-weighted MRI in severe neonatal hypoxic ischaemia: the white cerebrum.Physical map of the region surrounding the ataxia-telangiectasia gene on human chromosome 11q22-23.Reference range of cerebrospinal fluid opening pressure in children: historical overview and current data
P1433
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P1433
description
journal
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revista científica
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rivista scientifica
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wetenschappelijk tijdschrift van Thieme Medical Publishers
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wissenschaftliche Fachzeitschrift
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مجلة
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name
Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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type
label
Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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prefLabel
Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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Neuropediatrics
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P236
P6981
P3181
P1058
P1250
P1476
Neuropediatrics: journal of pediatric neurobiology, neurology and neurosurgery
@en