Successful management of severe coronoid process hyperplasia in a patient with mucopolysaccharidosis VI: a case report

Autor Khadembaschi, Darius, Arvier, John, Beech, Nicholas, Dolan, David, McGill, Jim
Vydáno v J Surg Case Rep (2020)

The Natural History and Osteodystrophy of Mucolipidosis Types II and III

Autor David-Vizcarra, Grace, Briody, Julie, Ault, Jenny, Fietz, Michael, Fletcher, Janice, Savarirayan, Ravi, Wilson, Meredith, McGill, Jim, Edwards, Matthew, Munns, Craig, Alcausin, Melanie, Cathey, Sarah, Sillence, David
Vydáno 2010

A systematic review of the prevalence of Morquio A syndrome: challenges for study reporting in rare diseases

Autor 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
Vydáno v Orphanet J Rare Dis (2014)

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Autor 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.
Vydáno 2012

Multicentric Carpotarsal Osteolysis Is Caused by Mutations Clustering in the Amino-Terminal Transcriptional Activation Domain of MAFB

Autor 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, Stephen, Mitchell, Anna L., Mortier, Geert R., Robertson, Stephen P., Schroeder, Marie, Terhal, Paulien, Brown, Matthew A.
Vydáno 2014

Overcoming the barriers to diagnosis of Morquio A syndrome

Autor 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
Vydáno v Orphanet J Rare Dis (2014)

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

Autor 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
Vydáno v Orphanet J Rare Dis (2019)

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

Autor 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
Vydáno v Orphanet J Rare Dis (2019)

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Autor Lalani, Seema R., Liu, Pengfei, Rosenfeld, Jill A., Watkin, Levi B., Chiang, Theodore, Leduc, Magalie S., Zhu, Wenmiao, Ding, Yan, Pan, Shujuan, Vetrini, Francesco, Miyake, Christina Y., Shinawi, Marwan, Gambin, Tomasz, Eldomery, Mohammad K., Akdemir, Zeynep Hande Coban, Emrick, Lisa, Wilnai, Yael, Schelley, Susan, Koenig, Mary Kay, Memon, Nada, Farach, Laura S., Coe, Bradley P., Azamian, Mahshid, Hernandez, Patricia, Zapata, Gladys, Jhangiani, Shalini N., Muzny, Donna M., Lotze, Timothy, Clark, Gary, Wilfong, Angus, Northrup, Hope, Adesina, Adekunle, Bacino, Carlos A., Scaglia, Fernando, Bonnen, Penelope E., Crosson, Jane, Duis, Jessica, Maegawa, Gustavo H.B., Coman, David, Inwood, Anita, McGill, Jim, Boerwinkle, Eric, Graham, Brett, Beaudet, Art, Eng, Christine M., Hanchard, Neil A., Xia, Fan, Orange, Jordan S., Gibbs, Richard A., Lupski, James R., Yang, Yaping
Vydáno v Am J Hum Genet (2016)