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Author/Creator Murphy, Elaine

52. 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. Issue 5 (16th April 2020)

Authors:
Phadke, Rahul; Hedberg‐Oldfors, Carola; Scalco, Renata S.; Lowe, David M.; Ashworth, Michael; Novelli, Marco; Vara, Roshni; Merwick, Aine; Amer, Halima; Sofat, Reecha; Sugarman, Max; Jovanovic, Ana; Roberts, Mark; Nakou, Vasiliki; King, Andrew; Bodi, Istvan; Jungbluth, Heinz; Oldfors, Anders; Mur...
Journal:
Journal of inherited metabolic disease
Issue:
Volume 43:Issue 5(2020)
Page Start:
1002
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

55. Results from a 78‐week, single‐arm, open‐label phase 2 study to evaluate UX007 in pediatric and adult patients with severe long‐chain fatty acid oxidation disorders (LC‐FAOD). Issue 1 (11th February 2019)

Authors:
Vockley, Jerry; Burton, Barbara; Berry, Gerard T.; Longo, Nicola; Phillips, John; Sanchez‐Valle, Amarilis; Tanpaiboon, Pranoot; Grunewald, Stephanie; Murphy, Elaine; Bowden, Alexandra; Chen, Wencong; Chen, Chao‐Yin; Cataldo, Jason; Marsden, Deborah; Kakkis, Emil
Journal:
Journal of inherited metabolic disease
Issue:
Volume 42:Issue 1(2019)
Page Start:
169
Record Type:
Journal Article
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Available online (eLD content is only available in our Reading Rooms) ↗

57. Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2–3 trial. Issue 2 (February 2023)

Authors:
Köhler, Wolfgang; Engelen, Marc; Eichler, Florian; Lachmann, Robin; Fatemi, Ali; Sampson, Jacinda; Salsano, Ettore; Gamez, Josep; Molnar, Maria Judit; Pascual, Sílvia; Rovira, Maria; Vilà, Anna; Pina, Guillem; Martín-Ugarte, Itziar; Mantilla, Adriana; Pizcueta, Pilar; Rodríguez-Pascau, Laura; Tra...
Journal:
Lancet neurology
Issue:
Volume 22:Issue 2(2023)
Page Start:
127
Record Type:
Journal Article
View Content:
Available online (eLD content is only available in our Reading Rooms) ↗