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1

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:

Year:

2014

Language:

english

File:

PDF, 7.10 MB

english, 2014

2

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:

Year:

2004

Language:

english

File:

PDF, 167 KB

english, 2004

3

Laronidase Treatment of Mucopolysaccharidosis I

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

Journal:

Year:

2005

Language:

english

File:

PDF, 217 KB

english, 2005

4

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

Year:

2013

Language:

english

File:

PDF, 6.81 MB

english, 2013

5

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

Year:

2013

Language:

english

File:

PDF, 81 KB

english, 2013

6

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

Year:

2008

Language:

english

File:

PDF, 202 KB

english, 2008

7

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

Year:

2010

Language:

english

File:

PDF, 247 KB

english, 2010

8

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

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

9

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

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

10

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

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

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

11

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:

Year:

2014

Language:

english

File:

PDF, 947 KB

english, 2014

12

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

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

13

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

Year:

2018

Language:

english

File:

PDF, 254 KB

english, 2018

14

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

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

15

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

Year:

2011

Language:

english

File:

PDF, 71 KB

english, 2011

16

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

Year:

2010

Language:

english

File:

PDF, 41 KB

english, 2010

17

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

Year:

2009

Language:

english

File:

PDF, 737 KB

english, 2009

18

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

Year:

2013

Language:

english

File:

PDF, 112 KB

english, 2013

19

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 247 KB

english, 2001

20

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

Year:

2008

Language:

english

File:

PDF, 101 KB

english, 2008

21

Update on mucopolysaccharidosis type II

Michael Beck, Ed Wraith

Journal:

Acta Paediatrica

Year:

2007

Language:

english

File:

PDF, 159 KB

english, 2007

22

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

Year:

2012

Language:

english

File:

PDF, 58 KB

english, 2012

23

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

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

24

Anthony H. Futerman, Ari Zimran: Gaucher Disease

Journal:

Year:

2007

Language:

english

File:

PDF, 100 KB

english, 2007

25

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

Suresh Vijay, J Ed Wraith

Journal:

Acta Paediatrica

Year:

2005

Language:

english

File:

PDF, 81 KB

english, 2005

26

70. Review of 11 patients with NPC1 treated with miglustat

Elizabeth Jacklin, Jackie Imrie, Simon Jones, Ed Wraith

Journal:

Molecular Genetics and Metabolism

Year:

2010

Language:

english

File:

PDF, 42 KB

english, 2010

27

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

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

28

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

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

Journal:

Year:

2001

Language:

english

File:

PDF, 247 KB

english, 2001

29

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:

Year:

1991

Language:

english

File:

PDF, 499 KB

english, 1991

30

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

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

31

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

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

32

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

Year:

2013

Language:

english

File:

PDF, 66 KB

english, 2013

33

Mucopolysaccharidoses and the Eye

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

Journal:

Survey of Ophthalmology

Year:

2006

Language:

english

File:

PDF, 580 KB

english, 2006

34

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

Year:

2020

File:

PDF, 920 KB

2020

35

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

Year:

2002

Language:

english

File:

PDF, 88 KB

english, 2002

36

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

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

37

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

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

38

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

Year:

2011

Language:

english

File:

PDF, 318 KB

english, 2011

39

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

Year:

2009

Language:

english

File:

PDF, 43 KB

english, 2009

40

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

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

41

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:

Year:

2010

Language:

english

File:

PDF, 4.40 MB

english, 2010

42

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

Year:

1997

File:

PDF, 485 KB

1997

43

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

Year:

2010

Language:

english

File:

PDF, 1.77 MB

english, 2010

44

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

Year:

2013

Language:

english

File:

PDF, 72 KB

english, 2013

45

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

Year:

2000

Language:

english

File:

PDF, 693 KB

english, 2000

46

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

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

47

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

Year:

2009

Language:

english

File:

PDF, 326 KB

english, 2009

48

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

Year:

2013

Language:

english

File:

PDF, 67 KB

english, 2013

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