Browsing by Author Quinlivan, R

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Showing results 1 to 7 of 7
Issue DateTitleAuthor(s)
28-Oct-2021Clinical practice guidelines for glycogen storage disease V & VII (McArdle disease and Tarui disease) from an international study groupLucia, A; Martinuzzi, A; Nogales-Gadea, G; Quinlivan, R; Reason, S; Bali, D; Godfrey, R; Haller, R; Kishnani, P; Laforêt, P; Løkken, N; Musumeci, O; Santalla, A; Tarnopolsky, M; Toscano, A; Vissing, J; Voermans, N; Wakelin, A
2014From exercise intolerance to functional improvement: The second wind phenomenon in the identification of McArdle diseaseScalco, RS; Chatfield, S; Godfrey, R; Pattni, J; Ellerton, C; Beggs, A; Brady, S; Wakelin, A; Holton, JL; Quinlivan, R
2016Mcardle disease misdiagnosed as meningitisScalco, RS; Chatfield, S; Junejo, MH; Booth, S; Pattni, J; Godfrey, R; Quinlivan, R
2017Misdiagnosis is an important factor for diagnostic delay in McArdle diseaseScalco, RS; Morrow, JM; Booth, S; Chatfield, S; Godfrey, R; Quinlivan, R
3-Sep-2019The need for biochemical testing in beta‐enolase deficiency in the genomic eraWigley, R; Scalco, RS; Gardiner, AR; Godfrey, R; Booth, S; Kirk, R; Hilton‐Jones, D; Houlden, H; Heales, S; Quinlivan, R
16-May-2020Results of an open label feasibility study of sodium valproate in people with McArdle diseaseScalco, RS; Stemmerik, M; Løkken, N; Vissing, CR; Madsen, KL; Michalak, Z; Pattni, J; Godfrey, R; Samandouras, G; Bassett, P; Holton, JL; Krag, T; Haller, RG; Sewry, C; Wigley, R; Vissing, J; Quinlivan, R
2016Skeletal muscle disorders of glycogenolysis and glycolysisGodfrey, R; Quinlivan, R