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Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern

2004; Oxford University Press; Volume: 151; Issue: 4 Linguagem: Inglês

10.1111/j.1365-2133.2004.06101.x

1365-2133

D.K.B. Armstrong, P.C. Sharpe, Chelsea Chambers, Sharon D. Whatley, Andrew Roberts, George H. Elder,

Neonatal Health and Biochemistry

Journal Article Hepatoerythropoietic porphyria: a missense mutation in the UROD gene is associated with mild disease and an unusual porphyrin excretion pattern Get access D.K.B. Armstrong, D.K.B. Armstrong Departments of Dermatology and Clinical Biochemistry, Craigavon Area Hospital, Craigavon, Co Armagh, U.K Search for other works by this author on: Oxford Academic Google Scholar P.C. Sharpe, P.C. Sharpe Departments of Dermatology and Clinical Biochemistry, Craigavon Area Hospital, Craigavon, Co Armagh, U.K Search for other works by this author on: Oxford Academic Google Scholar C.R. Chambers, C.R. Chambers Departments of Dermatology and Clinical Biochemistry, Craigavon Area Hospital, Craigavon, Co Armagh, U.K Search for other works by this author on: Oxford Academic Google Scholar S.D. Whatley, S.D. Whatley Department of Medical Biochemistry and Immunology, University Hospital of Wales and University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, U.K Search for other works by this author on: Oxford Academic Google Scholar A.G. Roberts, A.G. Roberts Department of Medical Biochemistry and Immunology, University Hospital of Wales and University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, U.K Search for other works by this author on: Oxford Academic Google Scholar G.H. Elder G.H. Elder Department of Medical Biochemistry and Immunology, University Hospital of Wales and University of Wales College of Medicine, Heath Park, Cardiff CF14 4XN, U.K G. H. Elder. E‐mail: ghelder@trillium.fsworld.ac.uk Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 151, Issue 4, 1 October 2004, Pages 920–923, https://doi.org/10.1111/j.1365-2133.2004.06101.x Published: 01 October 2004 Article history Accepted: 16 February 2004 Published: 01 October 2004