Publications by authors named "Aimee Donald"

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Correction: Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, Aimée Donald, Simona D'Amore

Orphanet J Rare Dis· November 2025

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Glycoprotein non-metastatic melanoma protein B is a biomarker of inflammation in individuals with Gaucher disease: relationship to clinico-pathological subtypes.
Sebile Kilavuz, Kerri-Lee Wallom, Ana Catarina Gomes Almeida Augusto Caçote, Aimée Donald, Simona D'Amore

Orphanet J Rare Dis· October 2025

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Chest-sited intraventricular access devices for cerliponase alfa infusion in Batten disease at a single tertiary United Kingdom pediatric center.
Jack Read, Aimee Donald, Stephanie Rhead, Lervia Acquaah, Gabrielle Chan

J Neurosurg Pediatr· October 2025

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Secondary Mitochondrial Dysfunction in Gaucher Disease Type I, II and III-Review of the Experimental and Clinical Evidence.
Mollie Dewsbury, Tyler Purcell, Derralynn Hughes, Aimee Donald, Iain P Hargreaves

Genes (Basel)· October 2025

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Gaucher disease type 3: Classification of the chronic neuronopathic variant informed by genotype in a phenotypically diverse cohort.
Aimée Donald, Simon A Jones, Derralynn A Hughes, Heather J Church,

Genet Med· September 2025

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Disease-Modifying, Neuroprotective Effect of N-Acetyl-l-Leucine in Adult and Pediatric Patients With Niemann-Pick Disease Type C.
Marc C Patterson, Uma Ramaswami, Aimee Donald, Tomas Foltan, Matthias Gautschi

Neurology· July 2025

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Secondary Mitochondrial Dysfunction as a Cause of Neurodegenerative Dysfunction in Lysosomal Storage Diseases and an Overview of Potential Therapies.
Karolina M Stepien, Neve Cufflin, Aimee Donald, Simon Jones, Heather Church

Int J Mol Sci· September 2022

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Thirty-year clinical outcomes after haematopoietic stem cell transplantation in neuronopathic Gaucher disease.
Aimee Donald, Cecilia Kämpe Björkvall, Ashok Vellodi, , Timothy M Cox

Orphanet J Rare Dis· June 2022

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In-depth phenotyping for clinical stratification of Gaucher disease.
Simona D'Amore, Kathleen Page, Aimée Donald, Khadijeh Taiyari, Brian Tom

Orphanet J Rare Dis· October 2021

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Throwing a spotlight on under-recognized manifestations of Gaucher disease: Pulmonary involvement, lymphadenopathy and Gaucheroma.
Uma Ramaswami, Eugen Mengel, Abdelkrim Berrah, Moeenaldeen AlSayed, Alex Broomfield, Aimee Donald

Mol Genet Metab· August 2021

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Wearable Technologies for Children with Chronic Illnesses: An Exploratory Approach.
Flora McErlane, Elin Haf Davies, Cecile Ollivier, Anna Mayhew, Obuchinezia Anyanwu, Aimee Donald

Ther Innov Regul Sci· July 2021

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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease.
Aimee Donald, Chong Y Tan, Anupam Chakrapani, Derralyn A Hughes, Reena Sharma

Orphanet J Rare Dis· December 2020

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The definition of neuronopathic Gaucher disease.
Raphael Schiffmann, Jeff Sevigny, Arndt Rolfs, Elin Haf Davies, Ozlem Goker-Alpan, Aimee Donald

J Inherit Metab Dis· September 2020

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Measuring disease activity and patient experience remotely using wearable technology and a mobile phone app: outcomes from a pilot study in Gaucher disease.
Aimee Donald, Huseyin Cizer, Niamh Finnegan, Tanya Collin-Histed, Derralynn A Hughes

Orphanet J Rare Dis· September 2019

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Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.
Melissa Leija-Salazar, Fritz J Sedlazeck, Marco Toffoli, Stephen Mullin, Katya Mokretar, Aimee Donald

Mol Genet Genomic Med· March 2019

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