Search Results - "Arts, W.F.M"
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INV17 When to start drug treatment for childhood epilepsy: the clinical-epidemiological evidence
Published in European journal of paediatric neurology (2007)Get full text
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Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease
Published in Neuromuscular disorders : NMD (01-06-2008)“…Abstract Pompe disease (type 2 glycogenosis, acid maltase deficiency) is a disorder affecting skeletal and cardiac muscle, caused by deficiency of acid…”
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Effect of enzyme therapy in juvenile patients with Pompe disease: A three-year open-label study
Published in Neuromuscular disorders : NMD (01-12-2010)“…Abstract Pompe disease is a rare neuromuscular disorder caused by deficiency of acid α-glucosidase. Treatment with recombinant human α-glucosidase recently…”
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Absence epilepsy and periventricular nodular heterotopia
Published in Seizure (London, England) (01-09-2010)“…Abstract We report a case of a girl who presented with typical absence seizures at age of 4.5 years. EEG showed absence seizures of sudden onset with 3 Hz…”
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P132 Fetal size and febrile seizures; the Generation R Study
Published in European journal of paediatric neurology (2009)Get full text
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Cognitive outcome of patients with classic infantile Pompe disease receiving enzyme therapy
Published in Neurology (08-05-2012)“…Classic infantile Pompe disease affects many tissues, including the brain. Untreated infants die within their first year. Although enzyme-replacement therapy…”
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Cerebellar leukoencephalopathy : Most likely histiocytosis-related
Published in Neurology (21-10-2008)“…Histiocytosis, both Langerhans and non-Langerhans cell type, can be associated with cerebellar white matter abnormalities, thought to be paraneoplastic. The…”
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The accuracy of the diagnosis of paroxysmal events in children
Published in Neurology (25-03-2003)“…To assess the accuracy of the diagnosis of epileptic seizures in children. The Dutch Study of Epilepsy in Childhood is a prospective hospital-based study of…”
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Interrater agreement of the diagnosis and classification of a first seizure in childhood. The Dutch Study of Epilepsy in Childhood
Published in Journal of neurology, neurosurgery and psychiatry (01-02-2004)“…Objective: To assess the interrater agreement of the diagnosis and the classification of a first paroxysmal event in childhood. Methods: The descriptions of…”
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199 Generalized epilepsy before the age of 6 years
Published in European journal of paediatric neurology (1999)Get full text
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Multi-system signs and symptoms in X-linked ataxia carriers
Published in Journal of the neurological sciences (01-09-1996)“…Neurological, auditory, vestibular and ocular motor examinations were performed on 3 definite and 3 possible heterozygous carriers of a previously described…”
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Epidemiology of lissencephaly type I
Published in Neuroepidemiology (1991)“…In a cooperative study in The Netherlands 22 patients with lissencephaly type I were collected. In the period 1980-1988, the prevalence of lissencephaly type I…”
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Cytochrome c oxidase deficiency in subacute necrotizing encephalomyelopathy
Published in Journal of the neurological sciences (01-01-1987)“…Two new patients with Leigh's syndrome (subacute necrotizing encephalomyelopathy) due to deficiency of cytochrome c oxidase are presented and their data are…”
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Campylobacter jejuni gastroenteritis and acute encephalopathy
Published in The Journal of infection (01-01-1994)Get more information
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Segmental neurofibromatosis
Published in British journal of dermatology (1951) (01-01-1985)“…A child with segmental neurofibromatosis is reported. The clinical, histopathological and ultrastructural characteristics of this rare condition are described…”
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Hereditary neuralgic amyotrophy. Clinical, genetic, electrophysiological and histopathological studies
Published in Journal of the neurological sciences (01-01-1983)“…Clinical, genetic, electrophysiological and histopathological studies in a four-generation family with hereditary neuralgic amyotrophy (HNA) are described…”
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