Zobrazeno 1 - 10
of 89
pro vyhledávání: '"Jim McGill"'
Autor:
Arthavan Selvanathan, Kalliope Demetriou, Matthew Lynch, Michelle Lipke, Carolyn Bursle, Aoife Elliott, Anita Inwood, Leanne Foyn, Brett McWhinney, David Coman, Jim McGill
Publikováno v:
JIMD Reports, Vol 63, Iss 5, Pp 420-424 (2022)
Abstract N‐acetylglutamate synthase (NAGS) deficiency is a rare autosomal recessive disorder, which results in the inability to activate the key urea cycle enzyme, carbamoylphosphate synthetase 1 (CPS1). Patients often suffer life‐threatening epi
Externí odkaz:
https://doaj.org/article/baa9a26fcbdc464fb979306bb62699ec
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
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 1-21 (2019)
Abstract Introduction Mucopolysaccharidosis (MPS) VI or Maroteaux-Lamy syndrome (253200) is an autosomal recessive lysosomal storage disorder caused by deficiency in N-acetylgalactosamine-4-sulfatase (arylsulfatase B). The heterogeneity and progressi
Externí odkaz:
https://doaj.org/article/4b4cdd98c75840e4a9c116d9983d5417
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
Autor:
Shreya Bhushan, Charlton Noble, Fariha Balouch, Peter Lewindon, Guy Lampe, Peter Hodgkinson, Jim McGill, Looi Ee
Publikováno v:
Pediatric Transplantation. 26
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b2b15744794eed41ab1084fdb5e721d6
https://doi.org/10.1111/petr.14334
https://doi.org/10.1111/petr.14334
Publikováno v:
JIMD Reports
JIMD Reports, Vol 55, Iss 1, Pp 12-14 (2020)
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
http://europepmc.org/articles/PMC7463050
Publikováno v:
Gastroenterology. 161(3)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bf195b33e05b370aec84ca0411bb6ca8
https://pubmed.ncbi.nlm.nih.gov/33387512
https://pubmed.ncbi.nlm.nih.gov/33387512
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)
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
http://old.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942020000100303
Publikováno v:
Journal of Surgical Case Reports
Mucopolysaccharidoses are a group of rare lysosomal storage diseases caused by a deficiency of enzymes, which breakdown glycosaminoglycans, with consequent dysfunction of affected tissues. Mandibular coronoid hyperplasia, with associated trismus, has
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::778c606ee831937bafe07396c2e41262
http://europepmc.org/articles/PMC6963165
http://europepmc.org/articles/PMC6963165
Publikováno v:
Journal of Paediatrics and Child Health. 52:262-271
The lysosomal storage disorders are a collection of progressive, multisystem disorders that frequently present in childhood. Their timely diagnosis is paramount as they are becoming increasingly treatable. Musculoskeletal manifestations often occur e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::6ed3e8bb92816d6688f32d569a312c73
https://doi.org/10.1111/jpc.13122
https://doi.org/10.1111/jpc.13122