S
Stuart Tanner
Researcher at University of Sheffield
Publications - 17
Citations - 1505
Stuart Tanner is an academic researcher from University of Sheffield. The author has contributed to research in topics: Wilson's disease & Disease. The author has an hindex of 10, co-authored 17 publications receiving 1235 citations. Previous affiliations of Stuart Tanner include Boston Children's Hospital & Medical University of Vienna.
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Journal ArticleDOI
Diagnosis and phenotypic classification of Wilson disease
Peter Ferenci,Karel Caca,Georgios Loudianos,G Mieli-Vergani,Stuart Tanner,Irmin Sternlieb,Michael L. Schilsky,Diane W. Cox,Frieder Berr +8 more
TL;DR: The Wilson disease gene ATP7B encodes a P‐type ATPase, an inherited autosomal recessive disorder of hepatic copper metabolism leading to copper accumulation in hepatocytes and in extrahepatic organs such as the brain and the cornea.
Journal ArticleDOI
A genetic study of Wilson’s disease in the United Kingdom
Alison J. Coffey,Miranda Durkie,Stephen Hague,Kirsten McLay,Kirsten McLay,Jennifer Emmerson,Christine Lo,Stefanie Klaffke,Christopher J. Joyce,Anil Dhawan,Nedim Hadzic,Giorgina Mieli-Vergani,Richard Kirk,K Elizabeth Allen,David Nicholl,Siew L. Wong,William Griffiths,Sarah F. Smithson,Nicola Giffin,Ali S. Taha,Sally Connolly,Godfrey T. Gillett,Stuart Tanner,James R. Bonham,Basil Sharrack,Aarno Palotie,Magnus Rattray,Ann Dalton,Oliver Bandmann +28 more
TL;DR: The genetic prevalence of Wilson's disease in the United Kingdom and the marked discrepancy between the genetic prevalence and the number of clinically diagnosed cases may be due to both reduced penetrance of ATP7B mutations and failure to diagnose patients with this eminently treatable disorder.
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Wilson's Disease in Children : A Position Paper by the Hepatology Committee of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition
Piotr Socha,Wojciech Jańczyk,Anil Dhawan,Ulrich Baumann,Lorenzo D'Antiga,Stuart Tanner,Raffaele Iorio,Pietro Vajro,Roderick H. J. Houwen,Björn Fischler,Antal Dezsofi,Nedim Hadzic,Loreto Hierro,Jörg Jahnel,Valérie A. McLin,Valerio Nobili,Françoise Smets,Henkjan J. Verkade,Dominique Debray +18 more
TL;DR: Recommendations for diagnosis, treatment, and follow-up of Wilson's disease in children in children are provided.
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Glycogen storage disease type IX: High variability in clinical phenotype
Nicholas J. Beauchamp,Ann Dalton,Uma Ramaswami,Harri Niinikoski,Karine Mention,Patricio Kenny,Kaija-Leena Kolho,Julian Raiman,John H. Walter,Eileen P. Treacy,Stuart Tanner,Mark Sharrard +11 more
TL;DR: Molecular analysis allows accurate diagnosis where enzymology is uninformative and identifies the pattern of inheritance permitting counselling and family studies.
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Re-evaluation of the penicillamine challenge test in the diagnosis of Wilson's disease in children
Thomas Müller,Smita Koppikar,Rachel M Taylor,Fiona Carragher,Barbara Schlenck,Peter Heinz-Erian,Florian Kronenberg,Peter Ferenci,Stuart Tanner,Uwe Siebert,Uwe Siebert,Roland Staudinger,Giorgina Mieli-Vergani,Anil Dhawan +13 more
TL;DR: This test is valuable in the diagnosis of Wilson's disease with active liver disease, but is unreliable to exclude the diagnosis in asymptomatic siblings.