Recommendations for the management of MPS IVA: systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (13.06.2019)
Published in Orphanet journal of rare diseases (13.06.2019)
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Journal Article
Outcome of neonatal screening for medium-chain acyl-CoA dehydrogenase deficiency in Australia: a cohort study
Wilcken, Bridget, Prof, Haas, Marion, PhD, Joy, Pamela, PhD, Wiley, Veronica, PhD, Chaplin, Meredyth, BAppSc, Black, Carly, BPsych, Fletcher, Janice, MD, McGill, Jim, MBBS, Boneh, Avihu, MD
Published in The Lancet (British edition) (06.01.2007)
Published in The Lancet (British edition) (06.01.2007)
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Journal Article
A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases
Leadley, Regina M, Lang, Shona, Misso, Kate, Bekkering, Trudy, Ross, Janine, Akiyama, Takeyuki, Fietz, Michael, Giugliani, Roberto, Hendriksz, Chris J, Hock, Ngu Lock, McGill, Jim, Olaye, Andrew, Jain, Mohit, Kleijnen, Jos
Published in Orphanet journal of rare diseases (18.11.2014)
Published in Orphanet journal of rare diseases (18.11.2014)
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Journal Article
Expanded newborn screening: outcome in screened and unscreened patients at age 6 years
Wilcken, Bridget, Haas, Marion, Joy, Pamela, Wiley, Veronica, Bowling, Francis, Carpenter, Kevin, Christodoulou, John, Cowley, David, Ellaway, Carolyn, Fletcher, Janice, Kirk, Edwin P, Lewis, Barry, McGill, Jim, Peters, Heidi, Pitt, James, Ranieri, Enzo, Yaplito-Lee, Joy, Boneh, Avihu
Published in Pediatrics (Evanston) (01.08.2009)
Published in Pediatrics (Evanston) (01.08.2009)
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Journal Article
Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB
Zankl, Andreas, Duncan, Emma L., Leo, Paul J., Clark, Graeme R., Glazov, Evgeny A., Addor, Marie-Claude, Herlin, Troels, Kim, Chong Ae, Leheup, Bruno P., McGill, Jim, McTaggart, Steven, Mittas, Stephan, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Published in American journal of human genetics (09.03.2012)
Published in American journal of human genetics (09.03.2012)
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Journal Article
Recommendations for the management of MPS VI: systematic evidence- and consensus-based guidance
Akyol, Mehmet Umut, Alden, Tord D, Amartino, Hernan, Ashworth, Jane, Belani, Kumar, Berger, Kenneth I, Borgo, Andrea, Braunlin, Elizabeth, Eto, Yoshikatsu, Gold, Jeffrey I, Jester, Andrea, Jones, Simon A, Karsli, Cengiz, Mackenzie, William, Marinho, Diane Ruschel, McFadyen, Andrew, McGill, Jim, Mitchell, John J, Muenzer, Joseph, Okuyama, Torayuki, Orchard, Paul J, Stevens, Bob, Thomas, Sophie, Walker, Robert, Wynn, Robert, Giugliani, Roberto, Harmatz, Paul, Hendriksz, Christian, Scarpa, Maurizio
Published in Orphanet journal of rare diseases (29.05.2019)
Published in Orphanet journal of rare diseases (29.05.2019)
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Journal Article
Use of the arm‐span to height ratio as a criterion for Marfan syndrome in Aboriginal Australians: Diagnostically challenging
McInerney‐Leo, Aideen M., West, Jennifer A., McGill, Jim J., Brown, Matthew A., Duncan, Emma L., West, Malcolm J.
Published in American journal of medical genetics. Part A (01.04.2020)
Published in American journal of medical genetics. Part A (01.04.2020)
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Journal Article
Lysosomal storage disorders: A review of the musculoskeletal features
James, Rebecca A., Singh-Grewal, Davinder, Lee, Senq-J, McGill, Jim, Adib, Navid
Published in Journal of paediatrics and child health (01.03.2016)
Published in Journal of paediatrics and child health (01.03.2016)
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Journal Article
N‐acetylglutamate synthase deficiency with associated 3‐methylglutaconic aciduria: A case report
Selvanathan, Arthavan, Demetriou, Kalliope, Lynch, Matthew, Lipke, Michelle, Bursle, Carolyn, Elliott, Aoife, Inwood, Anita, Foyn, Leanne, McWhinney, Brett, Coman, David, McGill, Jim
Published in JIMD reports (01.09.2022)
Published in JIMD reports (01.09.2022)
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Journal Article
Overcoming the barriers to diagnosis of Morquio A syndrome
Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Choy, Yew Sing, Fietz, Michael, Fu, Antony, Jin, Dong Kyu, Kim, Ok-Hwa, Kosuga, Motomichi, Kwun, Young Hee, Inwood, Anita, Lin, Hsiang-Yu, McGill, Jim, Mendelsohn, Nancy J, Okuyama, Torayuki, Samion, Hasri, Tan, Adeline, Tanaka, Akemi, Thamkunanon, Verasak, Toh, Teck-Hock, Yang, Albert D, Lin, Shuan-Pei
Published in Orphanet journal of rare diseases (30.11.2014)
Published in Orphanet journal of rare diseases (30.11.2014)
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Journal Article
Acute hyperammonemic encephalopathy in adult onset ornithine transcarbamylase deficiency
Panlaqui, Ogee Mer, Tran, Khoa, Johns, Amanda, McGill, Jim, White, Hayden
Published in Intensive care medicine (01.10.2008)
Published in Intensive care medicine (01.10.2008)
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Journal Article
Safety and Efficacy of Elosulfase Alfa in Australian Patients with Morquio a Syndrome: A Phase 3b Study
Bhattacharya, Kaustuv, Balasubramaniam, Shanti, Murray, Kevin, Peters, Heidi, Ketteridge, David, Inwood, Anita, Lee, Joy, Ellaway, Carolyn, Owens, Penny, Wong, Melanie, Ly, Christine, McGill, Jim
Published in Journal of inborn errors of metabolism and screening (2020)
Published in Journal of inborn errors of metabolism and screening (2020)
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Journal Article
The natural history and osteodystrophy of mucolipidosis types II and III
David-Vizcarra, Grace, Briody, Julie, Ault, Jenny, Fietz, Michael, Fletcher, Janice, Savarirayan, Ravi, Wilson, Meredith, McGill, Jim, Edwards, Matthew, Munns, Craig, Alcausin, Melanie, Cathey, Sara, Sillence, David
Published in Journal of paediatrics and child health (01.06.2010)
Published in Journal of paediatrics and child health (01.06.2010)
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Journal Article
Current diagnosis and management of mucopolysaccharidosis VI in the Asia-Pacific region
Hwu, Wuh-Liang, Okuyama, Torayuki, But, Wai Man, Estrada, Sylvia, Gu, Xuefan, Hui, Joannie, Kosuga, Motomichi, Lin, Shuan-Pei, Ngu, Lock-Hock, Shi, Huiping, Tanaka, Akemi, Thong, Meow-Keong, Wattanasirichaigoon, Duangrurdee, Wasant, Pornswan, McGill, Jim
Published in Molecular genetics and metabolism (01.09.2012)
Published in Molecular genetics and metabolism (01.09.2012)
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Gottlieb, Klaus, Requa, James, McGILL, Jim
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
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Gottlieb, Klaus, Requa, James, McGILL, Jim
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
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Gottlieb, Klaus, Requa, James, McGILL, Jim
Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
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Published in Gastroenterology (New York, N.Y. 1943) (01.09.2021)
Journal Article
Identification of a novelCOCH mutation, I109N, highlights the similar clinical features observed in DFNA9 families
Kamarinos, Maria, McGill, Jim, Lynch, Michael, Dahl, Henrik
Published in Human mutation (01.04.2001)
Published in Human mutation (01.04.2001)
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