Oral History Interview transcript - James T. (Jim) McGill, Ph.D

Autor: James T. (Jim) McGill, Ph.D.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::3d84348f966c82c8c2ae96382d4fecbe

Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance

Autor: 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

Publikováno v: Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-25 (2019)

Abstract Introduction Mucopolysaccharidosis (MPS) IVA or Morquio A syndrome is an autosomal recessive lysosomal storage disorder (LSD) caused by deficiency of the N-acetylgalactosamine-6-sulfatase (GALNS) enzyme, which impairs lysosomal degradation o

Externí odkaz: https://doaj.org/article/07788539a8b74b2fa1444bee0867e560

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

Autor: Kaustuv Bhattacharya, Shanti Balasubramaniam, Kevin Murray, Heidi Peters, David Ketteridge, Anita Inwood, Joy Lee, Carolyn Ellaway, Penny Owens, Melanie Wong, Christine Ly, Jim McGill

Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

Abstract The safety and efficacy of elosulfase alfa were evaluated in a multicenter, open-label, phase 3b study in Australian Morquio A patients, consisting of a 49-week initial phase and an extension phase until elosulfase alfa was government funded

Externí odkaz: https://doaj.org/article/dae1f9a672474bbca5c3a5f334009db9

Successful management of a neonate with OTC deficiency presenting with hyperammonemia and severe cardiac dysfunction with extracorporeal membrane oxygenation support and continuous renal replacement therapy

Autor: Adrian C. Mattke, Jim McGill, Prem Venugopal, Robert N. Justo, Fumiaki Shikata

Publikováno v: JIMD Reports
JIMD Reports, Vol 55, Iss 1, Pp 12-14 (2020)

Ornithine transcarbamylase (OTC) deficiency is an X‐linked urea cycle disorder which—in severe form—results in rapid accumulation of ammonia and glutamine with subsequent irreversible brain injury. We present a case of severe left ventricular d

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bcd98dc9596678118932bb71361e151
http://europepmc.org/articles/PMC7463050

Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study

Autor: Shanti Balasubramaniam, David Ketteridge, Penny Owens, Christine Ly, Melanie Wong, Jim McGill, Anita Inwood, Carolyn Ellaway, Kaustuv Bhattacharya, Joy Lee, Heidi Peters, Kevin J. Murray

Publikováno v: Journal of Inborn Errors of Metabolism and Screening v.8 2020
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Volume: 8, Article number: e20200001, Published: 08 MAY 2020
Journal of Inborn Errors of Metabolism and Screening, Vol 8 (2020)

The safety and efficacy of elosulfase alfa were evaluated in a multicenter, open-label, phase 3b study in Australian Morquio A patients, consisting of a 49-week initial phase and an extension phase until elosulfase alfa was government funded. Thirtee

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17f1d0a25a98e8d3889236c04f2387a4
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100303