Heales Simon J - Great Ormond Street Hospital for Children NHS Foundation Trust, UCL Great Ormond Street Institute of Child Health

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The Effects of Casein Glycomacropeptide on General Health Status in Children with PKU: A Randomized Crossover Trial

Alex Pinto,Anne Daly,Camille Newby, Abigail Robotham,Simon Heales,Simon Eaton, Helen Aitkenhead, Kimberly Gilmour,Richard Jackson,Catherine Ashmore,Sharon Evans, Júlio Cesar Rocha,Fatma Ilgaz,Mary Hickson,Anita MacDonald

Molecular genetics and metabolismno. 4 (2024): 108607-108607

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Development and Translation of a Method of Clinical Utility for LC-MS/MS Analysis to Detect SARS-CoV-2 Antigens from ONP Swabs and Saliva

N Leigh Anderson,Alistair Bailey,Perdita Barran, Philip Brownbridge, Kathleen Cain,Rachel S Carling,Rainer Cramer,R Neil Dalton, Matthew E Daly, Kayleigh Davis,Ivan Doykov,Maria Emilia Dueñas,Edward Emmott,Claire E Eyers,Akshada Gajbhiye,Bethany Geary, Pankaj Gupta,Jenny Hällqvist,Evita Hartmane,Simon Heales,Tiaan Heunis,Wendy Heywood,Katherine A Hollywood,Rosalind E Jenkins,Donald JL Jones,Brian Keevil,Henriette Krenkel,Dan Lane,Catherine S Lane, Sophie Lellman, Ellen N Liggett, Xiaoli Meng,Clare Mills, Kevin Mills, Atakan A Nalbant,Leong L Ng,Benjamin Nicholas, Dan Noels, Terry W Pearson,Andrew Pitt,Matthew E Pope,Andrew Porter, George W Preston,Morteza Razavi,Andrew Shapanis,Frances R Sidgwick,Raj Singh,Paul Skipp, Reynard Speiss,Justyna Spiewak, Anna L Tierney,Drupad Trivedi,Matthias Trost, Richard D Unwin, Luke Wainwright,Caitlin Walton-Doyle, Anthony D Whetton,Sandra Wilks,Richard Yip

crossref（2024）

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Mrna Therapy Corrects Defective Glutathione Metabolism and Restores Ureagenesis in Preclinical Argininosuccinic Aciduria

Sonam Gurung,Oskar Vilhelmsson Timmermand,Dany Perocheau, Ana Luisa Gil-Martinez,Magdalena Minnion,Loukia Touramanidou,Sherry Fang,Martina Messina,Youssef Khalil,Justyna Spiewak, Abigail R. Barber,Richard S. Edwards, Patricia Lipari Pinto,Patrick F. Finn,Alex Cavedon,Summar Siddiqui,Lisa Rice,Paolo G. V. Martini,Deborah Ridout,Wendy Heywood, Ian Hargreaves,Simon Heales,Philippa B. Mills,Simon N. Waddington,Paul Gissen,Simon Eaton,Mina Ryten,Martin Feelisch,Andrea Frassetto,Timothy H. Witney,Julien Baruteau

Science Translational Medicine（2024）

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Fabry Disease Enzyme Enhancement on Migalastat Study: FEES

Mathura Kugan,Simona D'Amore, Udita Mitra-Royhurst, Sneha Patel, Derek Burke,Simon Heales,Uma Ramaswami

CLINICA CHIMICA ACTA (2024)

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Multi-Omic Analysis Reveals Lipid Dysregulation Associated with Mitochondrial Dysfunction in Parkinson’s Disease Brain

Jenny Hällqvist,Christina E Toomey,Rui Pinto,Anna Wernick, Mesfer Al Sharhani,Simon Heales,Simon Eaton,Kevin Mills,Sonia Gandhi,Wendy E Heywood

biorxiv（2024）

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Inherited Disorders of Metabolism

Elaine Murphy,Charlotte Ellerton,Simon Heales,Robin Lachmann, David Lynch,Robert Pitceathly

Neurologypp.945-985, (2024)

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

Ainara Salazar-Villacorta,Robert Spaull,Samyami Chowdhury, Bina Mukhtyar,Manali Chitre,Ruth Armstrong,Mario Sa, Saleel Chandratre,Usha Kini, Ravi Chinthapalli,Kshitij Mankad,Sniya Sudhakar,Simon Pope,Simon Heales,Manju A. Kurian

MOVEMENT DISORDERS CLINICAL PRACTICEno. 9 (2024): 1149-1152

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Biogenic Amines

Simon J. R. Heales, Daniel Mackenzie, Caroline Bhairo,Simon A. S. Pope

Laboratory Guide to the Methods in Biochemical Geneticspp.459-473, (2024)

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Evaluation, in a Highly Specialised Enzyme Laboratory, of a Digital Microfluidics Platform for Rapid Assessment of Lysosomal Enzyme Activity in Dried Blood Spots

Rohit Hirachan, Alistair Horman,Derek Burke,Simon Heales

JIMD Reportsno. 2 (2024): 124-131

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Biallelic PTPMT1 Variants Disrupt Cardiolipin Metabolism and Lead to a Neurodevelopmental Syndrome

Brain a journal of neurology (2024)

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