Elaine Murphy

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 5

Top Topics

Replacement Therapy

Duchenne Muscular Dystrophy

Health Insurance

Top Venues

Journal of inherited metabolic disease

Practical neurology

Journal of neurology

This page only lists publications with an associated author ORCID identifier.

Publications

Yael Finezilber, Charlotte Massey, Jessica A Radley, Elaine Murphy
Arginine:glycine amidinotransferase (AGAT) deficiency: an easy-to-miss treatable adult-onset myopathy. Practical neurology (2024)
Lynne Aitkenhead, Gauri Krishna, Charlotte Ellerton, Mohammed Moinuddin, Jessica Matcham, Lisha Shiel, Shasoty Hossain, Marianne Kiffin, Jennifer A Foley, Rachel Skeath, Maureen Cleary, Robin H Lachmann, Elaine Murphy
Long-term cognitive and psychosocial outcomes in adults with phenylketonuria. Journal of inherited metabolic disease 44 (6) (2021)
Rahul Phadke, Carola Hedberg-Oldfors, Renata S Scalco, David M Lowe, Michael Ashworth, Marco Novelli, Roshni Vara, Aine Merwick, Halima Amer, Reecha Sofat, Max Sugarman, Ana Jovanovic, Mark Roberts, Vasiliki Nakou, Andrew King, Istvan Bodi, Heinz Jungbluth, Anders Oldfors, Elaine Murphy
RBCK1-related disease: A rare multisystem disorder with polyglucosan storage, auto-inflammation, recurrent infections, skeletal, and cardiac myopathy-Four additional patients and a review of the current literature. Journal of inherited metabolic disease 43 (5) (2020)
S F Green, P Nguyen, K Kaalund-Hansen, S Rajakulendran, Elaine Murphy
Effectiveness, retention, and safety of modified ketogenic diet in adults with epilepsy at a tertiary-care centre in the UK. Journal of neurology 267 (4) (2020)
Douglas Chesher, Michael Oddy, Ulpee Darbar, Parag Sayal, Adrian Casey, Aidan Ryan, Annalisa Sechi, Charlotte Simister, Aoife Waters, Yehani Wedatilake, Robin H Lachmann, Elaine Murphy
Outcome of adult patients with X-linked hypophosphatemia caused by PHEX gene mutations. Journal of inherited metabolic disease 41 (5) (2018)