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Nuala Murphy
Researcher at Temple University
Publications - 75
Citations - 2784
Nuala Murphy is an academic researcher from Temple University. The author has contributed to research in topics: Vitamin D and neurology & Population. The author has an hindex of 26, co-authored 68 publications receiving 2360 citations. Previous affiliations of Nuala Murphy include Temple Street Children's University Hospital & Rotunda Hospital.
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Journal ArticleDOI
Activating germline mutations in STAT3 cause early-onset multi-organ autoimmune disease
Sarah E. Flanagan,Emma Haapaniemi,Mark Russell,Richard Caswell,Hana Lango Allen,Elisa De Franco,Timothy J. McDonald,Hanna Rajala,Hanna Rajala,Anita Ramelius,John Barton,Kaarina Heiskanen,Kaarina Heiskanen,Tarja Heiskanen-Kosma,Merja Kajosaari,Nuala Murphy,Tatjana Milenkovic,Mikko Seppänen,Åke Lernmark,Satu Mustjoki,Satu Mustjoki,Timo Otonkoski,Timo Otonkoski,Juha Kere,Noel G. Morgan,Sian Ellard,Andrew T. Hattersley +26 more
TL;DR: A new monogenic cause of autoimmunity resulting from de novo germline activating STAT3 mutations in five individuals with a spectrum of early-onset autoimmune disease, including type 1 diabetes is reported.
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The UK case-control study of cerebral oedema complicating diabetic ketoacidosis in children
J. A. Edge,R. W. Jakes,Y. Roy,Michael M. Hawkins,D. Winter,Martha E. Ford-Adams,Nuala Murphy,A. Bergomi,Barry Widmer,David B. Dunger +9 more
TL;DR: In this case–control study of DKA, baseline acidosis and abnormalities of sodium, potassium and urea concentrations were important predictors of risk of cerebral oedema.
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Developmental Trends in Cord and Postpartum Serum Thyroid Hormones in Preterm Infants
Fiona L. R. Williams,Judith Simpson,Caroline Delahunty,Simon Ogston,Jacoba J. Bongers-Schokking,Nuala Murphy,Hans van Toor,Sing-Yung Wu,Theo J. Visser,Robert Hume +9 more
TL;DR: The 23- to 27-wk group is distinctive; they are hypothyroxinemic on T( 4) levels, yet FT(4) levels are within the cord levels of equivalent gestational age.
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Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations
Sarah E. Flanagan,Ritika R. Kapoor,Girish Mali,Declan Cody,Nuala Murphy,Bernd Schwahn,Tania Siahanidou,Indraneel Banerjee,Teoman Akcay,Oscar Rubio-Cabezas,Julian P.H. Shield,Khalid Hussain,Sian Ellard +12 more
TL;DR: It is recommended that HNF4A sequencing is considered in all patients with diazoxide responsive HH diagnosed in the first week of life irrespective of a family history of diabetes, once KATP channel mutations have been excluded.
Journal ArticleDOI
Acute adrenal crisis in asthmatics treated with high-dose fluticasone propionate
G.R.G. Todd,Carlo L. Acerini,J.J. Buck,Nuala Murphy,R Ross-Russell,Justin T. Warner,D McCance +6 more
TL;DR: Four cases of asthma (one adult, three children) developing acute adrenal crisis after introduction of high-dose inhaled fluticasone proprionate are presented and cases of hypthoalamic-pituitary-adrenal axis suppression were excluded.