Bryan Winchester

University College London — United Kingdom

Medicine · Health Sciences

58h-index10.7kcitations280works0.02yr avg
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Research Topics

Lysosomal Storage Disorders Research(133), Carbohydrate Chemistry and Synthesis(131), Glycosylation and Glycoproteins Research(91), Trypanosoma species research and implications(47), Glycogen Storage Diseases and Myoclonus(25)

Publications280 total

Laboratory Diagnosis and Monitoring of Lysosomal Storage Diseases
2022
Lysosomal Storage Diseases
2022
Classification of Lysosomal Diseases
2022
Index
2022
Front Matter
2022
Miscellaneous Disorders of the Lysosome
2022· 3 cited
Prenatal Diagnosis of Disorders of Lipid Metabolism
2021
Using orphan drugs: view from the frontline
2018
Origin of α-mannosidase activity in CSF
The International Journal of Biochemistry & Cell Biology·2017· 9 cited
Prenatal Diagnosis of Disorders of Lipid Metabolism
2015
Lysosomal diseases: diagnostic update
Journal of Inherited Metabolic Disease·2014· 22 cited
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
Journal of Proteome Research·2013· 59 cited
Other Lysosomal Disorders
2012
Classification of Lysosomal Storage Diseases
2012· 7 cited
Front Matter
2012
Multiple Enzyme Deficiencies
2012· 1 cited
Laboratory Diagnosis of Lysosomal Storage Diseases
2012· 11 cited
Biomarkers for the mucopolysaccharidoses: Discovery and clinical utility
Molecular Genetics and Metabolism·2012· 35 cited
Expert recommendations for the laboratory diagnosis of MPS VI
Molecular Genetics and Metabolism·2012· 48 cited
Clinical utility gene card for: Fabry disease
European Journal of Human Genetics·2011· 4 citedOpen Access
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Frequent Co-authors

Ashok Vellodi(7), George W. J. Fleet(7), Peter T. Clayton(6), Isabelle Cenci di Bello(6), Kevin Mills(5), Geoffrey Keir(5), Elisabeth Young(4), E. Young(4), Alan Cooper(3), Gert Matthijs(3), O. P. van Diggelen(3), D. Robinson(3), C. Phillip Morris(3), Stephen Waldek(3), Sung Keon Namgoong(3), Joanna P. Davies(2), Andreas Gal(2), Cathy Meaney(2), François Foulquier(2), Els Schollen(2)