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Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts.
Diagnosis of respiratory chain defects in cultured skin fibroblasts is a difficult diagnostic procedure. We investigated the feasibility of using survival of skin fibroblasts in culture medium withExpand
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Aicardi syndrome: natural history and possible predictors of severity.
Aicardi syndrome is defined by the clinical triad of infantile spasms, agenesis of the corpus callosum, and pathognomonic chorioretinal lacunae. Almost all patients are girls with severe cognitiveExpand
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The clinical features, MRI findings, and outcome of optic neuritis in children
Background: Optic neuritis (ON) in childhood is thought to be more likely bilateral and less likely to lead to multiple sclerosis (MS) vs ON in adults. Methods: The authors evaluated clinicalExpand
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Visual and auditory neurotoxicity in patients receiving subcutaneous deferoxamine infusions.
Of 89 patients receiving nightly subcutaneous deferoxamine for transfusion-dependent thalassemia major or Diamond-Blackfan anemia, 13 presented with visual loss or deafness of acute onset or both.Expand
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The natural history and ophthalmic involvement in childhood myasthenia gravis at the hospital for sick children.
OBJECTIVE To characterize signs, symptoms, and the natural history of myasthenic syndromes in pediatric patients. DESIGN Retrospective noncomparative case series. PARTICIPANTS Thirty-fourExpand
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Natural history and outcome of optic pathway gliomas in children
The optimal management of optic pathway gliomas (OPGs) is complicated by their variable natural history, the association with neurofibromatosis type 1 (NF1) and difficulties in defining progressionExpand
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Intraorbital wood. Detection by magnetic resonance imaging.
The authors present two cases in which intraorbital wooden foreign bodies remained undetected after initial ophthalmologic examination and radiologic investigation which included plain orbitalExpand
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Changes in the electroretinogram resulting from discontinuation of vigabatrin in children
Electroretinograms (ERGs) have been recorded longitudinally in children before and during treatment with the antiepileptic drug vigabatrin for the past 3.5 years. Vigabatrin induced changes in ERGExpand
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Flicker sensitivity in treated ocular hypertension.
Reductions in flicker sensitivity in ocular hypertension are thought to precede manifest glaucomatous damage, but the proportion of patients with ocular hypertension reported to have losses inExpand
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Role of ocular involvement in the prediction of visual development and clinical prognosis in Aicardi syndrome.
AIMS/BACKGROUND: This study was undertaken to document visual function and acuity in patients with Aicardi syndrome, and to determine whether there is any relation between ocular features of theExpand
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