Publications by authors named "Bryan Winchester"

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Origin of α-mannosidase activity in CSF.
Anna Tasegian, Silvia Paciotti, Maria Rachele Ceccarini, Michela Codini, Tim Moors, Bryan Winchester

Int J Biochem Cell Biol· June 2017

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Lysosomal diseases: diagnostic update.
Bryan Winchester

J Inherit Metab Dis· July 2014

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The identification of new biomarkers for identifying and monitoring kidney disease and their translation into a rapid mass spectrometry-based test: evidence of presymptomatic kidney disease in pediatric Fabry and type-I diabetic patients.
Victoria Manwaring, Wendy E Heywood, Robert Clayton, Robin H Lachmann, Joan Keutzer, Bryan Winchester

J Proteome Res· May 2013

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Biomarkers for the mucopolysaccharidoses: discovery and clinical utility.
Lorne A Clarke, Bryan Winchester, Roberto Giugliani, Anna Tylki-Szymańska, Hernan Amartino

Mol Genet Metab· August 2012

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Clinical utility gene card for: Fabry disease.
Andreas Gal, Michael Beck, Bryan Winchester

Eur J Hum Genet· February 2012

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G6PC3 mutations are associated with a major defect of glycosylation: a novel mechanism for neutrophil dysfunction.
Bu'hussain Hayee, Aristotelis Antonopoulos, Emma J Murphy, Farooq Z Rahman, Gavin Sewell, Bryan Winchester

Glycobiology· July 2011

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Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group.
Andreas Gal, Derralynn A Hughes, Bryan Winchester

J Inherit Metab Dis· April 2011

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Mucopolysaccharidosis type I in 21 Czech and Slovak patients: mutation analysis suggests a functional importance of C-terminus of the IDUA protein.
Alzbeta Vazna, Clare Beesley, Linda Berna, Larisa Stolnaja, Helena Myskova, Bryan Winchester

Am J Med Genet A· May 2009

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Discovery of a new biomarker for the mucopolysaccharidoses (MPS), dipeptidyl peptidase IV (DPP-IV; CD26), by SELDI-TOF mass spectrometry.
Clare E Beesley, Elisabeth P Young, Niamh Finnegan, Marie Jackson, Kevin Mills, Bryan G Winchester

Mol Genet Metab· April 2009

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Treatment of Fabry disease with different dosing regimens of agalsidase: effects on antibody formation and GL-3.
Anouk C Vedder, Frank Breunig, Wilma E Donker-Koopman, Kevin Mills, Elisabeth Young, Bryan Winchester

Mol Genet Metab· July 2008

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Human RFT1 deficiency leads to a disorder of N-linked glycosylation.
Micha A Haeuptle, François M Pujol, Christine Neupert, Bryan Winchester, Alexander J Kastaniotis

Am J Hum Genet· March 2008

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A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.
François Foulquier, Daniel Ungar, Ellen Reynders, Renate Zeevaert, Philippa Mills, Bryan Winchester

Hum Mol Genet· April 2007

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Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID).
Clare E Beesley, Daniela Concolino, Mirella Filocamo, Bryan G Winchester, Pietro Strisciuglio

Mol Genet Metab· January 2007

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Case of X-linked myopathy with excessive autophagy.
Gabriel Chow, Clare E Beesley, Keith Robson, Bryan G Winchester, Janice L Holton

J Child Neurol· May 2006

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Diagnosis of congenital disorders of glycosylation type-I using protein chip technology.
Kevin Mills, Philippa Mills, Marie Jackson, Viki Worthington, Clare Beesley, Bryan Winchester

Proteomics· April 2006

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Conserved oligomeric Golgi complex subunit 1 deficiency reveals a previously uncharacterized congenital disorder of glycosylation type II.
François Foulquier, Eliza Vasile, Els Schollen, Nico Callewaert, Tim Raemaekers, Bryan Winchester

Proc Natl Acad Sci U S A· March 2006

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Prevalence of Fabry disease in patients with cryptogenic stroke: a prospective study.
Arndt Rolfs, Tobias Böttcher, Marlies Zschiesche, Peter Morris, Bryan Winchester

Lancet· November 2005

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The synthesis of internal standards for the quantitative determination of sphingolipids by tandem mass spectrometry.
Kevin Mills, Simon Eaton, Victoria Ledger, Elisabeth Young, Bryan Winchester

Rapid Commun Mass Spectrom· July 2005

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Non-invasive screening method for Fabry disease by measuring globotriaosylceramide in whole urine samples using tandem mass spectrometry.
Teruo Kitagawa, Nobuyuki Ishige, Ken Suzuki, Misao Owada, Toya Ohashi, Bryan Winchester

Mol Genet Metab· July 2005

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Lysosomal metabolism of glycoproteins.
Bryan Winchester

Glycobiology· June 2005

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A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.
Suzan Wopereis, Eva Morava, Stephanie Grünewald, Philippa B Mills, Bryan G Winchester

Biochim Biophys Acta· June 2005

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Potent and selective inhibition of class II alpha-D-mannosidase activity by a bicyclic sulfonium salt.
Aloysius Siriwardena, Heather Strachan, Samer El-Daher, Gemma Way, Bryan Winchester

Chembiochem· May 2005

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Monitoring the clinical and biochemical response to enzyme replacement therapy in three children with Fabry disease.
Kevin Mills, Ashok Vellodi, Peter Morris, Donald Cooper, Michael Morris, Bryan Winchester

Eur J Pediatr· October 2004

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Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A.
Nicole Muschol, Stephan Storch, Diana Ballhausen, Clare Beesley, Jan-Christoph Westermann, Bryan Winchester

Hum Mutat· June 2004

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