Publications by authors named "Marie Appleton"

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Blood samples for ammonia analysis do not require transport to the laboratory on ice: a study of ammonia stability and cause of ammonia increase in samples from patients with hyperammonaemia.
Gavin W Mercer-Smith, Marie Appleton, Élodie A Hanon, Ann Bowron

Clin Chem Lab Med· May 2025

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Recurrent hyperammonaemia in a patient with carbonic anhydrase VA deficiency.
Christopher Stockdale, Ann Bowron, Marie Appleton, Ruth Richardson, Mark Anderson

JIMD Rep· November 2022

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Early-onset coenzyme Q10 deficiency associated with ataxia and respiratory chain dysfunction due to novel pathogenic variants, including a large intragenic deletion.
Ana Cotta, Charlotte L Alston, Sidney Baptista-Junior, Julia F Paim, Elmano Carvalho, Marie Appleton

JIMD Rep· July 2020

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Exome sequencing in undiagnosed inherited and sporadic ataxias.
Angela Pyle, Tania Smertenko, David Bargiela, Helen Griffin, Jennifer Duff, Marie Appleton

Brain· February 2015

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ANO10 mutations cause ataxia and coenzyme Q₁₀ deficiency.
Andrea Balreira, Veronika Boczonadi, Emanuele Barca, Angela Pyle, Boglarka Bansagi, Marie Appleton

J Neurol· November 2014

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