Simon R. Heales

Queen Square
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 89 publications

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Mitochondrial stress markers associate with phenotypic variability in Fabry disease.

Journal: Orphanet journal of rare diseases

Published: April 02, 2026

Corrigendum to "The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial" [Molecular Genetics and Metabolism Volume 143, Issue 4, December 2024, 108607].

Corrigendum to "The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial" [Molecular Genetics and Metabolism Volume 143, Issue 4, December 2024, 108607].

Journal: Molecular genetics and metabolism

Published: March 18, 2025

The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial.

The effects of casein glycomacropeptide on general health status in children with PKU: A randomized crossover trial.

Journal: Molecular genetics and metabolism

Published: October 02, 2024

Fabry disease Enzyme Enhancement on migalastat Study: FEES.

Fabry disease Enzyme Enhancement on migalastat Study: FEES.

Journal: Clinica chimica acta; international journal of clinical chemistry

Published: May 30, 2024

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Clinical Features, Biochemistry, Imaging, and Treatment Response in a Single-Center Cohort With Coenzyme Q10 Biosynthesis Disorders.

Journal: Neurology. Genetics

Published: May 02, 2024

SH-SY5Y cells undergo changes in peroxisomal metabolism when exposed to decanoic acid.

SH-SY5Y cells undergo changes in peroxisomal metabolism when exposed to decanoic acid.

Journal: Journal of neurochemistry

Published: May 02, 2024

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Avoiding Premature Diagnostic Closure: Lessons from Two Children with Neurotransmitter Disorders Associated with Dual Pathology.

Journal: Movement disorders clinical practice

Published: March 06, 2024

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain.

Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brain.

Journal: Nature communications

Published: February 26, 2024

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

mRNA therapy corrects defective glutathione metabolism and restores ureagenesis in preclinical argininosuccinic aciduria.

Journal: Science translational medicine

Published: January 10, 2024

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Evaluation, in a highly specialised enzyme laboratory, of a digital microfluidics platform for rapid assessment of lysosomal enzyme activity in dried blood spots.

Journal: JIMD reports

Published: September 29, 2023

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Journal: Brain : a journal of neurology

Published: August 22, 2023

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

The incidence of movement disorder increases with age and contrasts with subtle and limited neuroimaging abnormalities in argininosuccinic aciduria.

Journal: Journal of inherited metabolic disease

Published: July 26, 2023

Showing 1-12 of 89

Last Updated: 09/26/2026