Helen Prunty

London, ENG WC1N3BH, United Kingdom

Last Updated: 09/26/2026

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Found 13 publications

A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene.

A novel hereditary encephalopathy in four related Labrador Retrievers associated with a missense variant in the ALDH5A1 gene.

Journal: Journal of veterinary internal medicine
Published: June 23, 2025

Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency.

Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency.

Journal: Molecular therapy. Methods & clinical development
Published: June 02, 2024

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.

Journal: JIMD reports
Published: April 28, 2023

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.

Journal: JIMD reports
Published: August 11, 2021

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.

Journal: Journal of inherited metabolic disease
Published: May 06, 2020

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.

Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.

Journal: Molecular therapy. Methods & clinical development
Published: March 07, 2020

Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.

Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.

Journal: Clinical pharmacology and therapeutics
Published: August 07, 2019

Modelling of neutrophil dynamics in children receiving busulfan or treosulfan for haematopoietic stem cell transplant conditioning.

Modelling of neutrophil dynamics in children receiving busulfan or treosulfan for haematopoietic stem cell transplant conditioning.

Journal: British journal of clinical pharmacology
Published: July 09, 2019

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.

Journal: Nature communications
Published: May 19, 2017

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Rapidly Progressive White Matter Involvement in Early Childhood: The Expanding Phenotype of Infantile Onset Pompe?

Journal: JIMD reports
Published: April 02, 2017

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B6-Dependent Epilepsy.

Journal: American journal of human genetics
Published: August 16, 2016

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.

Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.

Journal: Nature communications
Published: June 27, 2014
Showing 1-12 of 13

Last Updated: 09/26/2026