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Derralynn A. Hughes

Derralynn A. Hughes,University College London,Genetics & Genealogy,Molecular Biology,Diseases

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Derralynn A. Hughes

University College London

Publications: 58 | Citations: 725

Fields: Genetics & Genealogy, Molecular Biology, Diseases

Collaborated with 186 co-authors from 1993 to 2011 | Cited by 2080 authors

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Publications (58)

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Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group (Citations: 1)

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Journal: Journal of Inherited Metabolic Disease - J INHERIT METAB DIS , vol. 34, no. 2, pp. 509-514, 2011

Early access experience with VPRIV ®: Recommendations for ‘core data’ collection

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Journal: Blood Cells Molecules and Diseases - BLOOD CELLS MOLECULES DIS , vol. 47, no. 2, pp. 140-142, 2011

A novel tool for mapping disease severity and outcomes in patients with Gaucher disease utilising the therapeutic goals

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Journal: Molecular Genetics and Metabolism - MOL GENET METAB , vol. 102, no. 2, pp. S46-S46, 2011

Cystatin C and NT -proBNP as prognostic biomarkers in Fabry disease

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Journal: Molecular Genetics and Metabolism - MOL GENET METAB , vol. 104, no. 3, pp. 301-307, 2011

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

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Journal: PLOS One , vol. 6, no. 6, 2011

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Citations (725 times by 561 publications)

Absence of scavenger receptor A promotes dendritic cell-mediated cross-presentation of cell-associated antigen and antitumor immune response (Citations: 1)

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Journal: Immunology and Cell Biology - IMMUN CELL BIOL , vol. 90, no. 1, pp. 101-108, 2012

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

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Journal: Molecular Therapy - MOL THER , vol. 20, no. 4, pp. 717-726, 2012

Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease

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Published in 2012.

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

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Journal: PLOS One , vol. 7, no. 5, 2012

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment (Citations: 22)

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Published in 2011.

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Co-authors (186)

Journals (33)

Keywords (134)

Derralynn A. Hughes,University College London,Genetics & Genealogy,Molecular Biology,Diseases

Publications (58)

BibTeX | RIS | RefWorks Download

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group (Citations: 1)

Early access experience with VPRIV ®: Recommendations for ‘core data’ collection

A novel tool for mapping disease severity and outcomes in patients with Gaucher disease utilising the therapeutic goals

Cystatin C and NT -proBNP as prognostic biomarkers in Fabry disease

A Distinct Urinary Biomarker Pattern Characteristic of Female Fabry Patients That Mirrors Response to Enzyme Replacement Therapy

Citations (725 times by 561 publications)

Absence of scavenger receptor A promotes dendritic cell-mediated cross-presentation of cell-associated antigen and antitumor immune response (Citations: 1)

Co-administration With the Pharmacological Chaperone AT1001 Increases Recombinant Human α-Galactosidase A Tissue Uptake and Improves Substrate Reduction in Fabry Mice

Long-term changes in arterial structure and function and left ventricular geometry after enzyme replacement therapy in patients affected with Fabry disease

Cardiomyopathy and Response to Enzyme Replacement Therapy in a Male Mouse Model for Fabry Disease

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment (Citations: 22)


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Derralynn A. Hughes,University College London,Genetics & Genealogy,Molecular Biology,Diseases

Publications (58) BibTeX | RIS | RefWorks Download

Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group (Citations: 1)

Absence of scavenger receptor A promotes dendritic cell-mediated cross-presentation of cell-associated antigen and antitumor immune response (Citations: 1)

Long-Term Effects of Enzyme Replacement Therapy on Fabry Cardiomyopathy Evidence for a Better Outcome With Early Treatment (Citations: 22)

Publications (58)

BibTeX | RIS | RefWorks Download