Helen Prunty

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

Yun Jin Pai, Kit‐Yi Leung, Dawn Savery et al. · Nature Communications · 2015 · 145 citations · Full text

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

Niklas Darín, Emma Reid, Laurence Prunetti et al. · The American Journal of Human Genetics · 2016 · 136 citations · Full text

Molecular Neuroscience, Genetics, Medicine +2

Successful reversal of propionic acidaemia associated cardiomyopathy: Evidence for low myocardial coenzyme Q10 status and secondary mitochondrial dysfunction as an underlying pathophysiological mechanism

Julien Baruteau, Iain P. Hargreaves, S. Krywawych et al. · Mitochondrion · 2014 · 48 citations

Cardiac Muscle, Cardiomyopathy, Heart Failure +11

Argininosuccinic aciduria fosters neuronal nitrosative stress reversed by Asl gene transfer

Julien Baruteau, Dany Perocheau, Joanna Hanley et al. · Nature Communications · 2018 · 48 citations · Full text

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 et al. · Journal of Inherited Metabolic Disease · 2011 · 43 citations · Full text