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B. Winchester

34

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316

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Highly Substituted cis-β-Cyclopentane Amino Acids: An Approach to the Synthesis of Trehazolin Analogues.

2010 ChemInform
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Biomarkers in lysosomal storage diseases - Commentary

2005 Acta Paediatrica
- Tm Cox
- B. Winchester
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20 novel mutations in 35 families

2001 Human Mutation
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A novel type of galactosylation disorder linked to impaired myelinization

2001 Glycobiology
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Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS

1999 Glycoconjugate Journal
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A fucosidosis patient with relative longevity and a missense mutation in exon 7 of the α-fucosidase gene

1998 Journal of Inherited Metabolic Disease
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Plasma chitotriosidase activity in Gaucher disease patients who have been treated either by bone marrow transplantation or by enzyme replacement therapy with alglucerase

1997 Journal of Inherited Metabolic Disease
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Allogeneic bone marrow transplantation for fucosidosis.

1995 Bone Marrow Transplantation
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Synthesis of Cyclopentane Spirohydantoins by Aldol Cyclizations: An Approach to Highly Substituted α-Cyclopentane Amino Acids.

1994 ChemInform
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Molecular basis of the common electrophoretic polymorphism (Fu1/Fu2) in human alpha-L-fucosidase.

1994 Journal of Medical Genetics
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