J. Ed Wraith : rechercher sur Z-Library

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Articles (48)
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Thoracolumbar Kyphosis in Treated Mucopolysaccharidosis 1 (Hurler Syndrome)

Yasin, M. Naveed, Sacho, Raphael, Oxborrow, Neil J., Wraith, J. Ed, Williamson, J. Bradley, Siddique, Irfan

Journal:

Spine

Année:

2014

Langue:

english

Fichier:

PDF, 7.10 MB

english, 2014

Study of Telomere Length Reveals Rapid Aging of Human Marrow Stromal Cells following In Vitro Expansion

Melissa A. Baxter, Robert F. Wynn, Simon N. Jowitt, J. Ed Wraith, Leslie J. Fairbairn, Ilaria Bellantuono

Journal:

STEM CELLS

Année:

2004

Langue:

english

Fichier:

PDF, 167 KB

english, 2004

The prevalence of and survival in Mucopolysaccharidosis I: Hurler, Hurler-Scheie and Scheie syndromes in the UK

David Moore, Martin J Connock, Ed Wraith, Christine Lavery

Journal:

Orphanet Journal of Rare Diseases

Année:

2008

Langue:

english

Fichier:

PDF, 202 KB

english, 2008

Laronidase Treatment of Mucopolysaccharidosis I

Wraith, Ed J, Hopwood, John J, Fuller, Maria, Meikle, Peter J, Brooks, Doug A

Journal:

BioDrugs

Année:

2005

Langue:

english

Fichier:

PDF, 217 KB

english, 2005

Emery and Rimoin's Principles and Practice of Medical Genetics || Mucopolysaccharidoses

Wraith, J.Ed.

Année:

2013

Langue:

english

Fichier:

PDF, 6.81 MB

english, 2013

Neuropathological changes are more pronounced in mouse models of Mucopolysaccharidosis (MPS) type IIIA and IIIB over MPS I

Wilkinson, Fiona, Holley, Rebecca, Langford-Smith, Kia, Badrinath, Soumya, Liao, Aiyin, Langford-Smith, Alex, Cooper, Jonathan, Jones, Simon, Wraith, Ed, Wynn, Rob, Merry, Catherine, Bigger, Brian

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 81 KB

english, 2013

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S)

Olaf A.F. Bodamer, Heather J. Church, Alan Cooper, J. Ed Wraith, C. Ronald Scott, Fernando Scaglia

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 88 KB

english, 2002

Frequent deletions at Xq28 indicate genetic heterogeneity in Hunter syndrome

Peter J. Wilson, Graeme K. Suthers, David F. Callen, Elizabeth Baker, Paul V. Nelson, Alan Cooper, J. Ed Wraith, Grant R. Sutherland, C. Phillip Morris, John J. Hopwood

Journal:

Human Genetics

Année:

1991

Langue:

english

Fichier:

PDF, 499 KB

english, 1991

Anthony H. Futerman, Ari Zimran: Gaucher Disease

Ed Wraith

Journal:

Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 100 KB

english, 2007

Heparin cofactor II-thrombin complex and dermatan sulphate:chondroitin sulphate ratio are biomarkers of short- and long-term treatment effects in mucopolysaccharide diseases

Kia Jane Langford-Smith, Jean Mercer, June Petty, Karen Tylee, Heather Church, Jane Roberts, Gill Moss, Simon Jones, Rob Wynn, J. Ed Wraith, Brian W. Bigger

Journal:

Journal of Inherited Metabolic Disease

Année:

2011

Langue:

english

Fichier:

PDF, 318 KB

english, 2011

Refsum disease is caused by mutations in the phytanoyl–CoA hydroxylase gene

Jansen, Gerbert A., Oftnan, Rob, Ferdinandusse, Sacha, Ijlst, Lodewijk, Muijsers, Anton O., Skjeldal, Ola H., Stokke, Oddvar, Jakobs, Cornells, Besley, Guy T.N., Wraith, J. Ed

Journal:

Nature Genetics

Année:

1997

Fichier:

PDF, 485 KB

1997

Enzyme Replacement Therapy for Mucopolysaccharidoses: Opinions of Patients and Families

David J. Coman, Ian M. Hayes, Veronica Collins, Margaret Sahhar, J. Ed Wraith, Martin B. Delatycki

Journal:

The Journal of Pediatrics

Année:

2008

Langue:

english

Fichier:

PDF, 101 KB

english, 2008

Improved Metabolic Correction in Patients with Lysosomal Storage Disease Treated with Hematopoietic Stem Cell Transplant Compared with Enzyme Replacement Therapy

Robert F. Wynn, J. Ed Wraith, Jean Mercer, Anne O'Meara, Karen Tylee, Margaret Thornley, Heather J. Church, Brian W. Bigger

Journal:

The Journal of Pediatrics

Année:

2009

Langue:

english

Fichier:

PDF, 326 KB

english, 2009

Clinical presentation and follow-up of patients with the attenuated phenotype of mucopolysaccharidosis type I

Suresh Vijay, J Ed Wraith

Journal:

Acta Paediatrica

Année:

2005

Langue:

english

Fichier:

PDF, 81 KB

english, 2005

Update on mucopolysaccharidosis type II

Michael Beck, Ed Wraith

Journal:

Acta Paediatrica

Année:

2007

Langue:

english

Fichier:

PDF, 159 KB

english, 2007

Circadian rhythm and suprachiasmatic nucleus alterations in the mouse model of mucopolysaccharidosis IIIB

Maria M. Canal, Fiona L. Wilkinson, Jonathan D. Cooper, J. Ed Wraith, Rob Wynn, Brian W. Bigger

Journal:

Behavioural Brain Research

Année:

2010

Langue:

english

Fichier:

PDF, 1.77 MB

english, 2010

Mucopolysaccharidoses and the Eye

Jane L. Ashworth, Susmito Biswas, Ed Wraith, I. Chris Lloyd

Journal:

Survey of Ophthalmology

Année:

2006

Langue:

english

Fichier:

PDF, 580 KB

english, 2006

10. Developing a lentiviral gene delivery system in stem cells for the treatment of Sanfilippo syndrome (MPS IIIA)

Brian Bigger, Bill Bennett, Fiona Wilkinson, Kia Langford, Angharad O’Leary, Ed Wraith, Rob Wynn

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 43 KB

english, 2008

46. The natural history of Niemann–Pick disease type C

Elizabeth Jacklin, Jackie Imrie, Suprana Dasgupta, Guy Besley, Harris Chris, Leslie Heptinstall, Stephen Knight, Marie Vanier, Anthony Fensom, Chandra Ward, Cath Whitehouse, Wraith Ed

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 43 KB

english, 2008

112. Safety monitoring of miglustat in patients with Niemann-Pick disease type C

Ed Wraith, Michael Beck, Jackie Imrie, Merce Pineda, Barbara Schwierin, Bruno Bembi

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 43 KB

english, 2008

111. Miglustat in Niemann-Pick disease type C (NPC)

Ed Wraith, Darleen Vecchio, Helena Prady, Larry Abel, Marc Patterson

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 43 KB

english, 2008

70. Niemann-Pick disease type C and inflammatory Bowel diseases: Is there any correlation?

Elizabeth Jacklin, Jackie Imrie, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 40 KB

english, 2009

99. Long-term clinical trial with miglustat in Niemann-Pick disease type C

Marc Patterson, Darlenn Vecchio, Elizabeth Jacklin, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 54 KB

english, 2009

154. Disease stability in patients with Niemann–Pick disease type C treated with miglustat

Ed Wraith, Darlenn Vecchio, Elizabeth Jacklin, Cicile Luzy, Ruben Giorgino, Marc Patterson

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 41 KB

english, 2009

100. A multicentre retrospective survey of miglustat in patients with Niemann-Pick type C disease

Marc Patterson, Merci Pineda, Fridiric Sedel, Eugen Mengel, Wuh-Liang Hwu, Marianne Rohrbach, Brubo Bembi, Christoph Korenke, Cicile Luzy, Peter Schieber, Ruben Giorgino, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 43 KB

english, 2009

Genistein reduces lysosomal storage in peripheral tissues of mucopolysaccharide IIIB mice

Marcelina Malinowska, Fiona L. Wilkinson, William Bennett, Kia J. Langford-Smith, H. Angharad O’Leary, Joanna Jakobkiewicz-Banecka, Rob Wynn, J. Ed Wraith, Grzegorz Wegrzyn, Brian W. Bigger

Journal:

Molecular Genetics and Metabolism

Année:

2009

Langue:

english

Fichier:

PDF, 737 KB

english, 2009

15. The effect of long-term substrate reduction therapy withgenistein in a mouse model of MPS IIIB

Brian Bigger, Marcela Malinowska, Fiona Wilkinson, Kia Langford-Smith, Alexander Langford-Smith, Rob Wynn, Ed Wraith, Grzegorz Wegrzyn, Brian Bigger

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 41 KB

english, 2010

70. Review of 11 patients with NPC1 treated with miglustat

Elizabeth Jacklin, Jackie Imrie, Simon Jones, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 42 KB

english, 2010

Evaluation of heparin cofactor II–thrombin complex as a biomarker on blood spots from mucopolysaccharidosis I, IIIA and IIIB mice

Kia Langford-Smith, Malani Arasaradnam, J. Ed Wraith, Rob Wynn, Brian W. Bigger

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 247 KB

english, 2010

Lentiviral mediated stem cell gene therapy corrects a mouse model of mucopolysaccharidosis type IIIA

Brian Bigger, Alex Langford-Smith, Fiona Wilkinson, Kia Langford-Smith, Ana Sergijenko, Ed Wraith, Rob Wynn

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 58 KB

english, 2011

Serum HCII-T and urinary DS:CS ratio are both predictive biomarkers of treatment outcome in patients with MPS I, II and VI

Brian Bigger, Kia Langford-Smith, Jean Mercer, June Petty, Karen Tylee, Heather Church, Jane Roberts, Gill Moss, Simon Jones, Rob Wynn, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 71 KB

english, 2011

Baseline data from a prospective international disease registry for Niemann-Pick disease type C

Marc Patterson, Eugen Mengel, Ed Wraith, Frits Wijburg, Marie Vanier, Barbara Schwierin, Audrey Muller, Mariabeth Silkey, Ruben Giorgino, Mercedes Pineda

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 57 KB

english, 2011

ZOOM: Observational genetic screening study of Niemann-Pick Disease Type C in adults with neurological and psychiatric signs

Marc Patterson, Peter Bauer, Hans Klünemann, Frederic Sedel, David Linden, Ed Wraith, Mercedes Pineda, Josef Priller, Audrey Muller, Harbajan Chadha-Boreham, Christine Remy, David Balding

Journal:

Molecular Genetics and Metabolism

Année:

2011

Langue:

english

Fichier:

PDF, 57 KB

english, 2011

Initial Human Experience with SBC-102, a Recombinant Enzyme Replacement Therapy in Adults with Lysosomal Acid Lipase Deficiency

Gregory Enns, Manisha Balwani, Patrick Deegan, V. ra Malinová, Tomá Honzík, Reena Sharma, Vassili Valayannopoulos, Ed Wraith, Eugene Schneider, Jennifer Burg, Anthony Quinn

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 60 KB

english, 2012

Update From the International Registry for Niemann-Pick Disease Type C (NP-C) in Clinical Practice

Marc Patterson, Mercé Pineda, Eugen Mengel, Frits Wijburg, Marie Vanier, Barbara Schwierin, Audrey Muller, Jonathan Alsop, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Année:

2012

Langue:

english

Fichier:

PDF, 58 KB

english, 2012

Increased risk of vitamin B12 deficiency in patients with phenylketonuria on an unrestricted or relaxed diet

Mark Robinson, Fiona J White, Maureen A Cleary, Ed Wraith, Wayne K Lam, John H Walter

Journal:

The Journal of Pediatrics

Année:

2000

Langue:

english

Fichier:

PDF, 693 KB

english, 2000

ERT and immune modulation can change the clinical course of CRIM negative Pompe disease — A case series of 3 related children

Jameson, Elisabeth, Breen, Catherine, Fletcher, Joan, Wraith, Ed, Hughes, Stephen, Hensman, Pauline, Manaf, Afia, Heales, Simon, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 67 KB

english, 2013

Heparan sulphate inhibits CXCL12-mediated hematopoietic cell migration and engraftment in mucopolysaccharidosis type I mice

Bigger, Brian, Watson, Angharad, Holley, Rebecca, Langford-Smith, Kia, Wilkinson, Fiona, van Kuppevelt, Toin, Wynn, Rob, Wraith, Ed, Merry, Catherine

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 72 KB

english, 2013

Myeloid driven stem cell gene therapy corrects a mouse model of Mucopolysaccharidiosis IIIA

Sergijenko, Ana, Langford-Smith, Alexander, Liao, Ai Yin, Pickford, Claire, McDermott, John, Langford-Smith, Kia, Merry, Catherine, Jones, Simon, Wraith, Ed, Wynn, Robert, Wilkinson, Fiona, Bigger, Br

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 67 KB

english, 2013

I-cell disease: The experience of six centres

Jameson, Elisabeth, Wilson, Barbara, Santra, Saikat, Broomfield, Alexander, McElligott, Fiona, Crushell, Ellen, Stewart, Fiona, Pierre, Germaine, Powers, Victoria, Wraith, Ed, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 67 KB

english, 2013

Niemann–Pick disease type C and Crohn's disease: A UK centre's experience with review of the literature

Jameson, Elisabeth, Laraway, Sarah, Cheesman, Edmund, Imrie, Jackie, Wraith, Ed, Jones, Simon

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 112 KB

english, 2013

The majority of MPS I patients tested raise inhibitory allo-antibodies against enzyme replacement therapy

Saif, Muhammad, Brookes, Karen E., Mercer, Jean, Tylee, Karen L., Church, Heather J., Bonney, Denise K., Jones, Simon, Wraith, J. Ed, Wynn, Robert F., Bigger, Brian W.

Journal:

Molecular Genetics and Metabolism

Année:

2013

Langue:

english

Fichier:

PDF, 66 KB

english, 2013

Craniovertebral Abnormalities in Type VI Mucopolysaccharidosis (Maroteaux-Lamy Syndrome)

Thorne, John A., Javadpour, Mohsen, Hughes, David G., Wraith, Ed, Cowie, Richard A.

Journal:

Neurosurgery

Année:

2001

Langue:

english

Fichier:

PDF, 247 KB

english, 2001

Craniovertebral Abnormalities in Type VI Mucopolysaccharidosis (Maroteaux-Lamy Syndrome)

Thorne, John A., Javadpour, Mohsen, Hughes, David G., Wraith, Ed, Cowie, Richard A.

Journal:

Neurosurgery

Année:

2001

Langue:

english

Fichier:

PDF, 247 KB

english, 2001

Genistein Improves Neuropathology and Corrects Behaviour in a Mouse Model of Neurodegenerative Metabolic Disease

Malinowska, Marcelina, Wilkinson, Fiona L., Langford-Smith, Kia J., Langford-Smith, Alex, Brown, Jillian R., Crawford, Brett E., Vanier, Marie T., Grynkiewicz, Grzegorz, Wynn, Rob F., Wraith, J. Ed, W

Journal:

PLoS ONE

Année:

2010

Langue:

english

Fichier:

PDF, 4.40 MB

english, 2010

Assessment of Sleep in Children with Mucopolysaccharidosis Type III

Mahon, Louise Victoria, Lomax, Michelle, Grant, Sheena, Cross, Elaine, Hare, Dougal Julian, Wraith, James Ed, Jones, Simon, Bigger, Brian, Langford-Smith, Kia, Canal, Maria, Ginsberg, Stephen D.

Journal:

PLoS ONE

Année:

2014

Langue:

english

Fichier:

PDF, 947 KB

english, 2014

A Decade of Low Transplant-Related Morbidity and Mortality in Children with Inherited Metabolic Diseases: A Report From a Single Metabolic Transplant Centre in the Europe

Lum, Su Han, Will, Andrew, Bonney, Denise, Hiwarkar, Prashant, Poulton, Kay, Church, Heather, Wraith, Ed, Jones, Simon A., Wynn, Robert F.

Journal:

Biology of Blood and Marrow Transplantation

Année:

2018

Langue:

english

Fichier:

PDF, 254 KB

english, 2018

Initial trail results of a magnetic biosensor for the rapid detection of Porcine Reproductive and Respiratory Virus (PRRSV) infection

Barnett, Jacqueline M., Monnier, Bertrand M., Tyler, Sue, West, David, Ballantine-Dykes, Hugh, Regan, Ed, Wraith, Patrick, Kiely, Janice, Luxton, Richard

Journal:

Sensing and Bio-Sensing Research

Année:

2020

Fichier:

PDF, 920 KB

2020