Publications by authors named "Bryan Sayson"

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Metabolic Evaluation of Epilepsy: A Diagnostic Algorithm With Focus on Treatable Conditions.
Clara D M van Karnebeek, Bryan Sayson, Jessica J Y Lee, Laura A Tseng, Nenad Blau

Front Neurol· December 2018

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Secondary Abnormal CSF Neurotransmitter Metabolite Profiles in a Pediatric Tertiary Care Centre.
Clara D M van Karnebeek, Mary Dunbar, Csilla Egri, Bryan Sayson, Janetta Milea

Can J Neurol Sci· March 2018

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Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families.
Jörn Oliver Sass, Corinne Gemperle-Britschgi, Maja Tarailo-Graovac, Nisha Patel, Melanie Walter, Bryan Sayson

Mol Genet Metab· September 2016

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De novo dominant variants affecting the motor domain of KIF1A are a cause of PEHO syndrome.
Sylvie Langlois, Maja Tarailo-Graovac, Bryan Sayson, Britt Drögemöller, Anne Swenerton

Eur J Hum Genet· June 2016

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Exome Sequencing and the Management of Neurometabolic Disorders.
Maja Tarailo-Graovac, Casper Shyr, Colin J Ross, Gabriella A Horvath, Ramona Salvarinova, Bryan Sayson

N Engl J Med· June 2016

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Retrospective analysis supports algorithm as efficient diagnostic approach to treatable intellectual developmental disabilities.
Bryan Sayson, Marioara Angela Moisa Popurs, Mirafe Lafek, Ruth Berkow, Sylvia Stockler-Ipsiroglu

Mol Genet Metab· May 2015

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Clinical, Biochemical, and Molecular Characterization of Novel Mutations in ABCA1 in Families with Tangier Disease.
Liam R Brunham, Martin H Kang, Clara Van Karnebeek, Singh N Sadananda, Jennifer A Collins, Bryan Sayson

JIMD Rep· March 2015

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Defects in fatty acid amide hydrolase 2 in a male with neurologic and psychiatric symptoms.
Sandra Sirrs, Clara D M van Karnebeek, Xiaoxue Peng, Casper Shyr, Maja Tarailo-Graovac, Bryan Sayson

Orphanet J Rare Dis· March 2015

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The genotypic and phenotypic spectrum of PIGA deficiency.
Maja Tarailo-Graovac, Graham Sinclair, Sylvia Stockler-Ipsiroglu, Margot Van Allen, Jacob Rozmus, Bryan Sayson

Orphanet J Rare Dis· February 2015

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