α-L-iduronidase therapy for mucopolysaccharidosis type I by Jakub Tolar, Paul J Orchard

Get full text

<i>N</i>-Acetylcysteine Reverses the Mitochondrial Dysfunction Induced by Very Long-Chain Fatty Acids in Murine Oligodendrocyte Model of Adrenoleukodystrophy by Jie Zhou, Marcia R. Terluk, Paul J. Orchard, James C. Cloyd, Reena V. Kartha

Get full text

Differences in MPS I and MPS II Disease Manifestations by Christiane S. Hampe, Brianna D. Yund, Paul J. Orchard, Troy C. Lund, Jacob Wesley, R. Scott McIvor

Get full text

Elevated cerebral spinal fluid cytokine levels in boys with cerebral adrenoleukodystrophy correlates with MRI severity. by Troy C Lund, Paul S Stadem, Angela Panoskaltsis-Mortari, Gerald Raymond, Weston P Miller, Jakub Tolar, Paul J Orchard

Get full text

Mucopolysaccharidosis Type I: A Review of the Natural History and Molecular Pathology by Christiane S. Hampe, Julie B. Eisengart, Troy C. Lund, Paul J. Orchard, Monika Swietlicka, Jacob Wesley, R. Scott McIvor

Get full text

The Role of Hematopoietic Cell Transplant in the Glycoprotein Diseases by Brianna M. Naumchik, Ashish Gupta, Heather Flanagan-Steet, Richard A. Steet, Sara S. Cathey, Paul J. Orchard, Troy C. Lund

Get full text

N-acetylcysteine Provides Cytoprotection in Murine Oligodendrocytes through Heme Oxygenase-1 Activity by Jie Zhou, Marcia R. Terluk, Lisa Basso, Usha R. Mishra, Paul J. Orchard, James C. Cloyd, Henning Schröder, Reena V. Kartha

Get full text

Isoprostanoid Plasma Levels Are Relevant to Cerebral Adrenoleukodystrophy Disease by Cinzia Signorini, Claudio De Felice, Thierry Durand, Jean-Marie Galano, Camille Oger, Silvia Leoncini, Joussef Hayek, Jetty Chung-Yung Lee, Troy C. Lund, Paul J. Orchard

Get full text

Mucopolysaccharidosis Type I: Current Treatments, Limitations, and Prospects for Improvement by Christiane S. Hampe, Jacob Wesley, Troy C. Lund, Paul J. Orchard, Lynda E. Polgreen, Julie B. Eisengart, Linda K. McLoon, Sebahattin Cureoglu, Patricia Schachern, R. Scott McIvor

Get full text

Glycoprotein nonmetastatic melanoma protein B (GNMPB) as a novel biomarker for cerebral adrenoleukodystrophy by Leyla A. Taghizadeh, Carina J. King, David R. Nascene, Ashish O. Gupta, Paul J. Orchard, LeeAnn Higgins, Todd W. Markowski, Erin E. Nolan, Justin W. Furcich, Troy C. Lund

Get full text

Biomarkers for prediction of skeletal disease progression in mucopolysaccharidosis type I by Troy C. Lund, Terence M. Doherty, Julie B. Eisengart, Rebecca L. Freese, Kyle D. Rudser, Ellen B. Fung, Bradley S. Miller, Klane K. White, Paul J. Orchard, Chester B. Whitley, Lynda E. Polgreen

Get full text

Evaluation of Neurofilament Light Chain as a Biomarker of Neurodegeneration in X-Linked Childhood Cerebral Adrenoleukodystrophy by Hongge Wang, Matthew D. Davison, Martin L. Kramer, Weiliang Qiu, Tatiana Gladysheva, Ruby M. S. Chiang, Can Kayatekin, David R. Nascene, Leyla A. Taghizadeh, Carina J. King, Erin E. Nolan, Ashish O. Gupta, Paul J. Orchard, Troy C. Lund

Get full text

A case series of adrenoleukodystrophy in children conceived through in vitro fertilization with an egg donor by Crystal Chang, B.S., Ashish O. Gupta, M.B.B.S., M.P.H., Paul J. Orchard, M.D., David R. Nascene, M.D., Janell Kierstein, M.S., Rebecca K. Tryon, M.S., M.A., Troy C. Lund, M.D., Ph.D.

Get full text

Treatment of thoracolumbar kyphosis in patients with mucopolysaccharidosis type I: results of an international consensus procedure by Gé-Ann Kuiper, Eveline J. Langereis, Sandra Breyer, Marco Carbone, René M. Castelein, Deborah M. Eastwood, Christophe Garin, Nathalie Guffon, Peter M. van Hasselt, Pauline Hensman, Simon A. Jones, Vladimir Kenis, Moyo Kruyt, Johanna H. van der Lee, William G. Mackenzie, Paul J. Orchard, Neil Oxborrow, Rossella Parini, Amy Robinson, Elke Schubert Hjalmarsson, Klane K. White, Frits A. Wijburg

Get full text

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance by Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

Get full text

Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance by Mehmet Umut Akyol, Tord D. Alden, Hernan Amartino, Jane Ashworth, Kumar Belani, Kenneth I. Berger, Andrea Borgo, Elizabeth Braunlin, Yoshikatsu Eto, Jeffrey I. Gold, Andrea Jester, Simon A. Jones, Cengiz Karsli, William Mackenzie, Diane Ruschel Marinho, Andrew McFadyen, Jim McGill, John J. Mitchell, Joseph Muenzer, Torayuki Okuyama, Paul J. Orchard, Bob Stevens, Sophie Thomas, Robert Walker, Robert Wynn, Roberto Giugliani, Paul Harmatz, Christian Hendriksz, Maurizio Scarpa, MPS Consensus Programme Steering Committee, MPS Consensus Programme Co-Chairs

Get full text