B. Winchester

M. Jackson, E. Young, B. Winchester, 2001, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

CLN2- Classic late infantile NCL

I. Gottlob, H. Goebel, B. Winchester, 2002 .

Laboratory Diagnosis of Lysosomal Storage Diseases

B. Winchester, 2012 .

Primary Defects in Lysosomal Enzymes

B. Winchester, 2004 .

Mutation analysis in 20 patients with Hunter disease

B. Winchester, H. Michelakakis, E. Young, 1996, Human mutation.

Study of the thermal denaturation of ribonuclease A by differential thermal analysis and susceptibility to proteolysis.

B. Winchester, B. Rabin, A. Mathias, 1970, Biochemical Journal.

Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries

K. Macdermot, C. Eng, R. Desnick, 1996, European journal of human genetics : EJHG.

Enzyme Replacement Therapy—An Experiment of Nature in a Chimeric Mannosidosis Calf

C. Murphy, B. Winchester, B. Manktelow, 1976, Pediatric Research.

A new form of ovine GM1-gangliosidosis

R. Franklin, B. Winchester, M. Jeffrey, 2004, Acta Neuropathologica.

Fucosidosis: genetic and biochemical analysis of eight cases.

E. Young, B. Winchester, H. Cragg, 1997, Journal of medical genetics.

Lysosomal metabolism of glycoproteins.

B. Winchester, Bryan Winchester, 2005, Glycobiology.

REVIEW Lysosomal metabolism of glycoproteins

B. Winchester, Bryan Winchester, 2005 .

A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

J. Connor, M. Whiteford, B. Winchester, 1998, Journal of Inherited Metabolic Disease.

The molecular defect underlying canine fucosidosis.

D. Sargan, B. Winchester, M. Herrtage, 1996, Journal of medical genetics.

Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.

B. Winchester, H. Cragg, D. Swallow, 1994, Journal of medical genetics.

Detection of 8 new mutations in the α-galactosidase A gene in Fabry disease

S. Malcolm, B. Winchester, H. Christomanou, 1994 .

A 5' splice site mutation in fucosidosis.

K. Kretz, P. Willems, E. Young, 1993, Journal of medical genetics.

Diagnosis of congenital disorders of glycosylation type‐I using protein chip technology

K. Mills, J. Langridge, P. Clayton, 2006, Proteomics.

Elevation of plasma aspartylglucosaminidase is a useful marker for the congenital disorders of glycosylation type I (CDG I)

K. Mills, P. Clayton, M. Jackson, 2005, Journal of Inherited Metabolic Disease.

Identification and characterization of 13 new mutations in mucopolysaccharidosis type I patients.

D. Brooks, R. Giugliani, U. Matte, 2003, Molecular genetics and metabolism.

Human RFT1 deficiency leads to a disorder of N-linked glycosylation.

A. Kastaniotis, T. Hennet, M. Aebi, 2008, American journal of human genetics.

Mucopolysaccharidosis type I in 21 Czech and Slovak patients: Mutation analysis suggests a functional importance of C-terminus of the IDUA protein

A. Hlavatá, J. Zeman, C. Beesley, 2009, American journal of medical genetics. Part A.

Sanfilippo syndrome type D: identification of the first mutation in the N-acetylglucosamine-6-sulphatase gene

C. Beesley, M. Jackson, E. Young, 2003, Journal of medical genetics.

Evidence that the mutant enzyme in fibroblasts of a patient with mannosidosis does not crossreact with antiserum raised against normal acidic alpha-D-mannosidase.

K. Chotai, B. Winchester, L. Burditt, 1978, FEBS letters.

Pseudodeficiency of arylsulphatase A: Strategy for clarification of genotype in families of subjects with low ASA activity and neurological symptoms

E. Young, B. Winchester, C. Meaney, 1995, Journal of Inherited Metabolic Disease.

A fluorimetric enzyme assay for the diagnosis of sanfilippo disease type A (MPS IIIA)

A. Hoogeveen, B. Winchester, O. Diggelen, 1996, Journal of Inherited Metabolic Disease.

Expert recommendations for the laboratory diagnosis of MPS VI.

W. Hwu, M. Pasquali, C. Hendriksz, 2012, Molecular genetics and metabolism.

Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB).

C. Beesley, E. Young, A. Vellodi, 1998, Journal of medical genetics.

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).

M. Filocamo, P. Strisciuglio, C. Beesley, 2007, Molecular genetics and metabolism.

A case of the carbohydrate-deficient glycoprotein syndrome type 1 (CDGS type 1) with normal phosphomannomutase activity

P. Clayton, A. Johnson, B. Winchester, 1997, Journal of Inherited Metabolic Disease.

Genotypes and phenotypes of patients in the UK with carbohydrate-deficient glycoprotein syndrome type 1

P. Clayton, C. Beesley, B. Winchester, 2000, Journal of Inherited Metabolic Disease.

Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: An updated nomenclature for CDG

A. Helenius, E. Berger, T. Hennet, 1999, Glycoconjugate Journal.

Genomic organization of the human phosphomannose isomerase (MPI) gene and mutation analysis in patients with congenital disorders of glycosylation type Ib (CDG‐Ib)

H. Freeze, M. Patterson, G. Matthijs, 2000, Human mutation.

Prenatal diagnosis of the carbohydrate‐deficient glycoprotein syndrome type 1A (CDG1A) by a combination of enzymology and genetic linkage analysis after amniocentesis or chorionic villus sampling

P. Clayton, E. Young, B. Winchester, 1998, Prenatal diagnosis.

Hypertrophic obstructive cardiomyopathy in a neonate with the carbohydrate-deficient glycoprotein syndrome

P. Clayton, B. Winchester, G. Keir, 1992, Journal of Inherited Metabolic Disease.

Other Lysosomal Disorders

B. Winchester, T. Cox, 2012 .

Canine alpha-L-fucosidase in relation to the enzymic defect and storage products in canine fucosidosis.

A. Dell, M. Rogers, B. Winchester, 1988, The Biochemical journal.

Cell contact induces the synthesis of a lysosomal enzyme precursor in lymphocytes and its direct transfer to fibroblasts.

George Bou-Gharios, B. Winchester, I. Olsen, 1988, Biochimica et biophysica acta.

Lymphocytes transfer only the lysosomal form of α-d-mannosidase during cell-to-cell contact☆

B. Winchester, I. Olsen, H. Muir, 1988 .

A combined defect in the biosynthesis of N- and O-glycans in patients with cutis laxa and neurological involvement: the biochemical characteristics.

Ron A Wevers, Eva Morava, Paul Coucke, 2005, Biochimica et biophysica acta.

A new inborn error of glycosylation due to a Cog8 deficiency reveals a critical role for the Cog1-Cog8 interaction in COG complex formation.

M. Krieger, W. Annaert, G. Matthijs, 2007, Human molecular genetics.

Prenatal diagnosis of enzyme defects--an update.

E. Young, B. Winchester, 1991, Archives of disease in childhood.

Identification of α1-Antitrypsin Variants in Plasma with the Use of Proteomic Technology

K. Mills, P. Clayton, B. Winchester, 2001 .

GLYCOGEN metabolism.

B. Winchester, 1959, Journal of the American Medical Association.

Successful treatment of carbohydrate deficient glycoprotein syndrome type 1b with oral mannose

G. Matthijs, C. Hendriksz, M. Henderson, 2001, Archives of disease in childhood.

Arylsulfatase A pseudodeficiency: a common polymorphism which is associated with a unique haplotype.

K. von Figura, V. Gieselmann, J. Zlotogora, 1994, American journal of medical genetics.

Neutral lipid storage disease. Case report and lipid studies

R. Salvayre, T. Levade, B. Winchester, 1994, The British journal of dermatology.

GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry

R. Franklin, A. Johnson, B. Winchester, 2000, Acta Neuropathologica.

Lysosomal Storage Disorders: A Practical Guide

A. Mehta, B. Winchester, 2013 .

Mammalian alpha-mannosidases--multiple forms but a common purpose?

C. Warren, B. Winchester, P. Daniel, 1994, Glycobiology.

Origin of α-mannosidase activity in CSF.

L. Parnetti, T. Beccari, W. V. D. van de Berg, 2017, The international journal of biochemistry & cell biology.

Purification and comparison of the structures of human liver acidic alpha-D-mannosidases A and B.

S. Malcolm, B. Winchester, S. Pemble, 1986, The Biochemical journal.

Affinity chromatography of human liver alpha-D-mannosidase.

N. Phillips, B. Winchester, D. Robinson, 1975, FEBS Letters.

Direct enzyme transfer from lymphocytes corrects a lysosomal storage disease.

B. Winchester, I. Olsen, H. Muir, 1985, Biochemical and biophysical research communications.

The underglycosylation of plasma alpha 1-antitrypsin in congenital disorders of glycosylation type I is not random.

K. Mills, P. Clayton, B. Winchester, 2003, Glycobiology.

Identification of alpha(1)-antitrypsin variants in plasma with the use of proteomic technology.

K. Mills, P. Clayton, A. Johnson, 2001, Clinical chemistry.

Mutational analysis of Sanfilippo syndrome type A (MPS IIIA): identification of 13 novel mutations

C. Beesley, E. Young, A. Vellodi, 2000, Journal of medical genetics.

Transport, enzymatic activity, and stability of mutant sulfamidase (SGSH) identified in patients with mucopolysaccharidosis type III A

T. Braulke, J. Hopwood, S. Storch, 2004, Human mutation.

DETECTION OF CYSTIC FIBROSIS HOMOZYGOTES AND HETEROZYGOTES WITH PLASMA

B. Winchester, S. Hirani, 1979, The Lancet.

α-d-Mannosidase distribution in murine liver

George Bou-Gharios, B. Winchester, I. Olsen, 1987 .

Effects of mitogenic stimulation on lymphocyte alpha-D-mannosidases.

George Bou-Gharios, B. Winchester, I. Olsen, 1986, European journal of cell biology.

Lymphocytes transfer only the lysosomal form of alpha-D-mannosidase during cell-to-cell contact.

B. Winchester, I. Olsen, H. Muir, 1988, Experimental cell research.

Lipid abnormalities in succinate semialdehyde dehydrogenase (Aldh5a1-/-) deficient mouse brain provide additional evidence for myelin alterations.

O. Snead, G. Barceló-Coblijn, K. Gibson, 2007, Biochimica et biophysica acta.

CASTANOSPERMINE-INDUCED DEFICIENCY OF LYSOSOMAL S-D-GLUCOSIDASE: A MODEL

B. Winchester, D. Mann, R. Nash, 1988 .

Castanospermine-Induced Deficiency of Lysosomal β-D-Glucosidase: A Model of Gaucher’s Disease in Fibroblasts

B. Winchester, D. Mann, R. Nash, 1988 .

MUCOPOLYSACCHARIDOSIS-II (HUNTER DISEASE) IN A FEMALE TWIN

S. Malcolm, E. Young, B. Winchester, 1990 .

GM1 gangliosidosis (type 1) in a cat.

A. Dell, W. Blakemore, B. Winchester, 1986, The Biochemical journal.

Canine alpha-L-fucosidase in relation to the enzymic defect and storage products in canine fucosidosis.

A. Dell, M. Rogers, B. Winchester, 1988, The Biochemical journal.