Simon J. Heales

Queen's Square, WC1N, 3BG
London, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 14 publications

A pilot study of alternative substrates in the critically Ill subject using a ketogenic feed.

A pilot study of alternative substrates in the critically Ill subject using a ketogenic feed.

Journal: Nature communications

Published: April 04, 2023

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Bi-allelic Variants in TKFC Encoding Triokinase/FMN Cyclase Are Associated with Cataracts and Multisystem Disease.

Journal: American journal of human genetics

Published: November 10, 2019

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.

Integrated Approach Reveals Role of Mitochondrial Germ-Line Mutation F18L in Respiratory Chain, Oxidative Alterations, Drug Sensitivity, and Patient Prognosis in Glioblastoma.

Journal: International journal of molecular sciences

Published: June 18, 2019

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Analysis of human cerebrospinal fluid monoamines and their cofactors by HPLC.

Journal: Nature protocols

Published: October 20, 2017

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neurons.

Journal: Acta neuropathologica communications

Published: September 19, 2017

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

Role of Intramuscular Levofolinate Administration in the Treatment of Hereditary Folate Malabsorption: Report of Three Cases.

Journal: JIMD reports

Published: March 31, 2017

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.

Journal: Brain : a journal of neurology

Published: October 14, 2016

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Monoamine neurotransmitter disorders--clinical advances and future perspectives.

Journal: Nature reviews. Neurology

Published: September 23, 2015

Development of pharmacological strategies for mitochondrial disorders.

Development of pharmacological strategies for mitochondrial disorders.

Journal: British journal of pharmacology

Published: August 23, 2013

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease.

Dysregulation of glucose metabolism is an early event in sporadic Parkinson's disease.

Journal: Neurobiology of aging

Published: March 06, 2013

Establishment of paediatric age-related reference intervals for serum prolactin to aid in the diagnosis of neurometabolic conditions affecting dopamine metabolism.

Establishment of paediatric age-related reference intervals for serum prolactin to aid in the diagnosis of neurometabolic conditions affecting dopamine metabolism.

Journal: Annals of clinical biochemistry

Published: February 14, 2013

Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Human neuronal coenzyme Q10 deficiency results in global loss of mitochondrial respiratory chain activity, increased mitochondrial oxidative stress and reversal of ATP synthase activity: implications for pathogenesis and treatment.

Journal: Journal of inherited metabolic disease

Published: March 21, 2012

Showing 1-12 of 14

Last Updated: 09/26/2026