Publications by authors named "Helen Prunty"

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Gene therapy prevents hepatic mitochondrial dysfunction in murine deoxyguanosine kinase deficiency.
Nandaki Keshavan, Miriam Greenwood, Helen Prunty, Juan Antinao Diaz, Riccardo Privolizzi

Mol Ther Methods Clin Dev· March 2025

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Clinical experience with glycerol phenylbutyrate in 20 patients with urea cycle disorders at a UK paediatric centre.
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Helen Prunty

JIMD Rep· September 2023

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Direct replacement of oral sodium benzoate with glycerol phenylbutyrate in children with urea cycle disorders.
Mildrid Yeo, Preeya Rehsi, Megan Dorman, Stephanie Grunewald, Julien Baruteau, Helen Prunty

JIMD Rep· March 2022

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Regulation of glycine metabolism by the glycine cleavage system and conjugation pathway in mouse models of non-ketotic hyperglycinemia.
Kit-Yi Leung, Sandra C P De Castro, Chloe Santos, Dawn Savery, Helen Prunty

J Inherit Metab Dis· November 2020

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Lentiviral Hematopoietic Stem Cell Gene Therapy Rescues Clinical Phenotypes in a Murine Model of Pompe Disease.
Giuseppa Piras, Claudia Montiel-Equihua, Yee-Ka Agnes Chan, Slawomir Wantuch, Daniel Stuckey, Helen Prunty

Mol Ther Methods Clin Dev· September 2020

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Proposed Therapeutic Range of Treosulfan in Reduced Toxicity Pediatric Allogeneic Hematopoietic Stem Cell Transplant Conditioning: Results From a Prospective Trial.
Robert Chiesa, Joseph F Standing, Robert Winter, Zohreh Nademi, Jan Chu, Helen Prunty

Clin Pharmacol Ther· August 2020

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Modelling of neutrophil dynamics in children receiving busulfan or treosulfan for haematopoietic stem cell transplant conditioning.
Belén P Solans, Robert Chiesa, Bilyana Doncheva, Helen Prunty, Paul Veys

Br J Clin Pharmacol· August 2020

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Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer.
Julien Baruteau, Dany P Perocheau, Joanna Hanley, Maëlle Lorvellec, Eridan Rocha-Ferreira, Helen Prunty

Nat Commun· August 2018

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Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B-Dependent Epilepsy.
Niklas Darin, Emma Reid, Laurence Prunetti, Lena Samuelsson, Ralf A Husain, Helen Prunty

Am J Hum Genet· December 2016

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Glycine decarboxylase deficiency causes neural tube defects and features of non-ketotic hyperglycinemia in mice.
Yun Jin Pai, Kit-Yi Leung, Dawn Savery, Tim Hutchin, Helen Prunty

Nat Commun· March 2015

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Urine analysis of glucose tetrasaccharide by HPLC; a useful marker for the investigation of patients with Pompe and other glycogen storage diseases.
Victoria Manwaring, Helen Prunty, Katie Bainbridge, Derek Burke, Niamh Finnegan

J Inherit Metab Dis· March 2012

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Multicentre age-related reference intervals for cerebrospinal fluid serine concentrations: implications for the diagnosis and follow-up of serine biosynthesis disorders.
Stuart Moat, Rachel Carling, Authur Nix, Michael Henderson, Anthony Briddon, Helen Prunty

Mol Genet Metab· January 2011

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