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Did you mean: lipo chondrodystrophy (2 items)

Select item 33574681.

Diagnosis and treatment trends in mucopolysaccharidosis I: findings from the MPS I Registry

Kristin D’Aco, Lisa Underhill, Lakshmi Rangachari, Pamela Arn, Gerald F. Cox, Roberto Giugliani, Torayuki Okuyama, Frits Wijburg, Paige Kaplan

Eur J Pediatr. 2012; 171(6): 911–919. Published online 2012 Jan 11. doi: 10.1007/s00431-011-1644-x

PMCID:: PMC3357468

Article PDF–2.2M

Select item 28393012.

A Self-inactivating γ-Retroviral Vector Reduces Manifestations of Mucopolysaccharidosis I in Mice

Jason A Metcalf, Xiucui Ma, Bruce Linders, Susan Wu, Axel Schambach, Kevin K Ohlemiller, Attila Kovacs, Mark Bigg, Li He, Douglas M Tollefsen, Katherine P Ponder

Mol Ther. 2010 Feb; 18(2): 334–342. Published online 2009 Oct 20. doi: 10.1038/mt.2009.236

PMCID:: PMC2839301

Article PDF–392K

Select item 28911773.

Tandem Mass Spectrometry for the Direct Assay of Lysosomal Enzymes in Dried Blood Spots: Application to Screening Newborns for Mucopolysaccharidosis I

Sophie Blanchard, Martin Sadilek, C. Ronald Scott, Frantisek Turecek, Michael H. Gelb

Clin Chem. Author manuscript; available in PMC 2010 Jun 24.

Published in final edited form as: Clin Chem. 2008 Dec; 54(12): 2067–2070. doi: 10.1373/clinchem.2008.115410

PMCID:: PMC2891177

Article PDF–52K

Select item 44504824.

Sleep disordered breathing in mucopolysaccharidosis I: a multivariate analysis of patient, therapeutic and metabolic correlators modifying long term clinical outcome

Abhijit Ricky Pal, Eveline J Langereis, Muhammad A Saif, Jean Mercer, Heather J Church, Karen L Tylee, Robert F Wynn, Frits A Wijburg, Simon A Jones, Iain A Bruce, Brian W Bigger

Orphanet J Rare Dis. 2015; 10: 42. Published online 2015 Apr 10. doi: 10.1186/s13023-015-0255-4

PMCID:: PMC4450482

Article PDF–1.1M

Select item 56023395.

Quantitative diffusion tensor imaging analysis does not distinguish pediatric canines with mucopolysaccharidosis I from control canines

Dana M Middleton, Jonathan Y Li, Steven D Chen, Leonard E White, Patricia I Dickson, N Matthew Ellinwood, James M Provenzale

Neuroradiol J. 2017 Oct; 30(5): 454–460. Published online 2017 Jul 13. doi: 10.1177/1971400917718844

PMCID:: PMC5602339

Article

Select item 46444596.

Diffusion tensor imaging and myelin composition analysis reveal abnormal myelination in corpus callosum of canine mucopolysaccharidosis I

James M. Provenzale, Igor Nestrasil, Steven Chen, Shih-hsin Kan, Steven Q. Le, Jacqueline K. Jens, Elizabeth M. Snella, Kristen N. Vondrak, Jennifer K. Yee, Charles H. Vite, David Elashoff, Lewei Duan, Raymond Y. Wang, N. Matthew Ellinwood, Miguel A. Guzman, Elsa G. Shapiro, Patricia I. Dickson

Exp Neurol. Author manuscript; available in PMC 2016 Nov 1.

Published in final edited form as: Exp Neurol. 2015 Nov; 273: 1–10. Published online 2015 Jul 26. doi: 10.1016/j.expneurol.2015.07.021

PMCID:: PMC4644459

Article PDF–1.4M

Select item 37251847.

Identification of infants at risk for developing Fabry, Pompe or Mucopolysaccharidosis-I from newborn blood spots by tandem mass spectrometry

C. Ronald Scott, Susan Elliott, Norman Buroker, Lauren I Thomas, Joan Keutzer, Michael Glass, Michael H. Gelb, Frantisek Turecek

J Pediatr. Author manuscript; available in PMC 2014 Aug 1.

Published in final edited form as: J Pediatr. 2013 Aug; 163(2): 498–503. Published online 2013 Mar 1. doi: 10.1016/j.jpeds.2013.01.031

PMCID:: PMC3725184

Article PDF–500K

Select item 34421578.

A Tandem Mass Spectrometry Triplex Assay for the Detection of Fabry, Pompe, and Mucopolysaccharidosis-I (Hurler)

Trisha A. Duffey, Garland Bellamy, Susan Elliott, Angela C. Fox, Michael Glass, Frantisek Turecek, Michael H. Gelb, C. Ronald Scott

Clin Chem. Author manuscript; available in PMC 2012 Sep 14.

Published in final edited form as: Clin Chem. 2010 Dec; 56(12): 1854–1861. Published online 2010 Oct 12. doi: 10.1373/clinchem.2010.152009

PMCID:: PMC3442157

Article PDF–868K

Select item 30843389.

Arterial Pathology in Canine Mucopolysaccharidosis-I and Response to Therapy

Jeremiah A. Lyons, Patricia Dickson, Jonathan Wall, Merry Passage, N. Matthew Ellinwood, Emil D. Kakkis, Michael F. McEntee

Lab Invest. Author manuscript; available in PMC 2011 Nov 1.

Published in final edited form as: Lab Invest. 2011 May; 91(5): 665–674. Published online 2011 Mar 7. doi: 10.1038/labinvest.2011.7

PMCID:: PMC3084338

Article PDF–4.3M

Select item 498303210.

Report of 5 novel mutations of the α-L-iduronidase gene and comparison of Korean mutations in relation with those of Japan or China in patients with mucopolysaccharidosis I

Min Jung Kwak, Rimm Huh, Jinsup Kim, Hyung-Doo Park, Sung Yoon Cho, Dong-Kyu Jin

BMC Med Genet. 2016; 17: 58. Published online 2016 Aug 12. doi: 10.1186/s12881-016-0319-x

PMCID:: PMC4983032

Article PDF–416K

Select item 427296411.

A Simple and Rapid Method Based on Liquid Chromatography-Tandem Mass Spectrometry for the Measurement of α-L-Iduronidase Activity in Dried Blood Spots: An Application to Mucopolysaccharidosis I (Hurler) Screening

Jeong Soo Yang, Hye Kyeong Min, Hyeon Ju Oh, Hye In Woo, Soo-Youn Lee, Jong-Won Kim, Junghan Song, Hyung-Doo Park

Ann Lab Med. 2015 Jan; 35(1): 41–49. Published online 2014 Dec 8. doi: 10.3343/alm.2015.35.1.41

PMCID:: PMC4272964

Article PDF–502K

Select item 427688212.

Heparan Sulfate Inhibits Hematopoietic Stem and Progenitor Cell Migration and Engraftment in Mucopolysaccharidosis I

H. Angharad Watson, Rebecca J. Holley, Kia J. Langford-Smith, Fiona L. Wilkinson, Toin H. van Kuppevelt, Robert F. Wynn, J. Edmond Wraith, Catherine L. R. Merry, Brian W. Bigger

J Biol Chem. 2014 Dec 26; 289(52): 36194–36203. Published online 2014 Oct 30. doi: 10.1074/jbc.M114.599944

PMCID:: PMC4276882

Article PDF–2.5M

Select item 354894113.

Retroviral Vector-mediated Gene Therapy to Mucopolysaccharidosis I Mice Improves Sensorimotor Impairments and Other Behavior Deficits

Guilherme Baldo, David F. Wozniak, Kevin K. Ohlemiller, Yanming Zhang, Roberto Giugliani, Katherine P. Ponder

J Inherit Metab Dis. Author manuscript; available in PMC 2014 May 1.

Published in final edited form as: J Inherit Metab Dis. 2013 May; 36(3): 499–512. Published online 2012 Sep 15. doi: 10.1007/s10545-012-9530-x

PMCID:: PMC3548941

Article PDF–3.2M

Select item 273690814.

Bone Marrow Transplantation for Feline Mucopolysaccharidosis I

N. Matthew Ellinwood, Marie-Anne Colle, Margaret A. Weil, Margret L. Casal, Charles H. Vite, Staci Wiemelt, Christopher W. Hasson, Thomas M. O’Malley, Xingxuan He, Ulana Prociuk, Lucie Verot, John R. Melniczek, Anne Lannon, Gustavo D. Aguirre, Van W. Knox, Sydney M. Evans, Marie T. Vanier, Edward H. Schuchman, Steven U. Walkley, Mark E. Haskins

Mol Genet Metab. Author manuscript; available in PMC 2009 Sep 2.

Published in final edited form as: Mol Genet Metab. 2007 Jul; 91(3): 239–250. Published online 2007 May 7. doi: 10.1016/j.ymgme.2007.03.001

PMCID:: PMC2736908

Article PDF–2.8M

Select item 283897015.

Upregulation of Elastase Activity in Aorta in Mucopolysaccharidosis I and VII Dogs May be Due to Increased Cytokine Expression

Jason A. Metcalf, Bruce Linders, Susan Wu, Paul Bigg, Patricia O’Donnell, Meg M. Sleeper, Michael P. Whyte, Mark Haskins, Katherine P. Ponder

Mol Genet Metab. Author manuscript; available in PMC 2011 Apr 1.

Published in final edited form as: Mol Genet Metab. 2010 Apr; 99(4): 396–407. Published online 2009 Dec 11. doi: 10.1016/j.ymgme.2009.12.003

PMCID:: PMC2838970

Article PDF–5.2M

Select item 366866516.

Postnatal progression of bone disease in the cervical spines of mucopolysaccharidosis I dogs

Joseph A Chiaro, Matthew D Baron, Chelsea del Alcazar, Patricia O’Donnell, Eileen M Shore, Dawn M Elliott, Katherine P Ponder, Mark E Haskins, Lachlan J Smith

Bone. Author manuscript; available in PMC 2014 Jul 1.

Published in final edited form as: Bone. 2013 Jul; 55(1): 78–83. Published online 2013 Apr 4. doi: 10.1016/j.bone.2013.03.014

PMCID:: PMC3668665

Article PDF–4.0M

Select item 436146317.

Pamela Arn, Iain A. Bruce, James E. Wraith, Helen Travers, Shari Fallet

Ann Otol Rhinol Laryngol. 2015 Mar; 124(3): 198–205. doi: 10.1177/0003489414550154

PMCID:: PMC4361463

Article PDF–601K

Select item 377533418.

Upregulation of elastase proteins results in aortic dilatation in mucopolysaccharidosis I mice

Xiucui Ma, Mindy Tittiger, Russell H. Knutsen, Attila Kovacs, Laura Schaller, Robert P. Mecham, Katherine P. Ponder

Mol Genet Metab. Author manuscript; available in PMC 2013 Sep 17.

Published in final edited form as: Mol Genet Metab. 2008 Jul; 94(3): 298–304. Published online 2008 May 13. doi: 10.1016/j.ymgme.2008.03.018

PMCID:: PMC3775334

Article PDF–2.4M

Select item 282925719.

Improved Retroviral Vector Design Results in Sustained Expression after Adult Gene Therapy in Mucopolysaccharidosis I Mice

Ramin Sedaghat Herati, Xiucui Ma, Mindy Tittiger, Kevin K Ohlemiller, Attila Kovacs, Katherine P. Ponder

J Gene Med. Author manuscript; available in PMC 2010 Feb 26.

Published in final edited form as: J Gene Med. 2008 Sep; 10(9): 972–982. doi: 10.1002/jgm.1229

PMCID:: PMC2829257

Article PDF–617K

Select item 442969220.

Intrathecal Gene Therapy Corrects CNS Pathology in a Feline Model of Mucopolysaccharidosis I

Christian Hinderer, Peter Bell, Brittney L Gurda, Qiang Wang, Jean-Pierre Louboutin, Yanqing Zhu, Jessica Bagel, Patricia O'Donnell, Tracey Sikora, Therese Ruane, Ping Wang, Mark E Haskins, James M Wilson

Mol Ther. 2014 Dec; 22(12): 2018–2027. Prepublished online 2014 Jul 16. Published online 2014 Aug 26. doi: 10.1038/mt.2014.135