Clinical heterogeneity in ethylmalonic encephalopathy (original) (raw)

Brief Communication Clinical Heterogeneity in Ethylmalonic Encephalopathy

Philippe Campeau

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Child Neurology: Ethylmalonic encephalopathy

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Ethylmalonic encephalopathy—report of two cases

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Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy

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Siblings with Ethylmalonic Encephalopathy: Case Report

Mustafa Kılıç

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Neurological and Vascular Manifestations of Ethylmalonic Encephalopathy NEUROMETABOLIC DISORDER ARTICLES: CASE REPORT

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Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?

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Myhre syndrome with ataxia and cerebellar atrophy

Ruxandra Bachmann-gagescu

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2002 Brain atrophy J Pediatr.pdf

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Case 1, 1989: Juvenile-onset parkinsonism, dystonia, and pyramidal tract signs

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Malformations of cortical development: clinical spectrum in a series of 101 patients and review of the literature (Part I)

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Polymicrogyria with Dysmorphic Neurons in a Patient with SNCA2 Mutation

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Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

Valeria Tiranti

2008

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Cerebellar vermis hypoplasia - non progressive congenital ataxia: clinical and radiological findings in a pair of siblings

Isac Bruck, Sergio Antoniuk

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Inborn Errors of Metabolism leading to Neuronal Migration Defects

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Congenital pontocerebellar atrophy and telencephalic defects in three siblings: a new subtype

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American Journal of Medical Genetics, 1992

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Jean Soto

Journal of Pediatrics, 1977

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Mutations inPTRH2cause novel infantile‐onset multisystem disease with intellectual disability, microcephaly, progressive ataxia, and muscle weakness

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Annals of Clinical and Translational Neurology, 2014

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Clinical Reasoning: Siblings with progressive weakness, hypotonia, nystagmus, and hearing loss

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Neuroimaging in Inborn Errors of Metabolism

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Case of a Two-Year-Old Boy With Recurrent Seizures, Abnormal Movements, and Central Hypoventilation

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An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant

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Biallelic Mutations inDNM1Lare Associated with a Slowly Progressive Infantile Encephalopathy

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Cerebellar hypoplasia: Differential diagnosis and diagnostic approach

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