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Nicholas J. Beauchamp
Nicholas J. Beauchamp
University of Sheffield
Glycogen storage disease
Biology
Internal medicine
Endocrinology
Diabetes mellitus
4
Papers
209
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Glycogen storage disease type III: diagnosis, genotype, management, clinical course and outcome
2016
Journal of Inherited Metabolic Disease
Christiaan P. Sentner
Irene J. Hoogeveen
David A. Weinstein
René Santer
Elaine Murphy
Patrick McKiernan
Ulrike Steuerwald
Nicholas J. Beauchamp
Joanna Taybert
P. Laforêt
François Petit
Aurélie Hubert
Philippe Labrune
G. Peter A. Smit
Terry G. J. Derks
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Citations (68)
Glycogen storage disease type III in the Irish population.
2010
Journal of Inherited Metabolic Disease
Ellen Crushell
Eileen P. Treacy
J. Dawe
M Durkie
Nicholas J. Beauchamp
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Citations (14)
Glycogen storage disease type IX: High variability in clinical phenotype
2007
Molecular Genetics and Metabolism
Nicholas J. Beauchamp
Ann Dalton
Uma Ramaswami
Harri Niinikoski
Karine Mention
Patricio Kenny
Kaija-Leena Kolho
Julian Raiman
J. H. Walter
Eileen P. Treacy
Stuart Tanner
Mark Sharrard
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Citations (95)
High frequency of missense mutations in glycogen storage disease type VI.
2007
Journal of Inherited Metabolic Disease
Nicholas J. Beauchamp
J. Taybert
Michael Champion
V. Layet
P. Heinz-Erian
Ann Dalton
M S Tanner
E. Pronicka
Mark Sharrard
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Citations (32)
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