학술논문
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'학술논문'
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Cif, L; Demailly, D; Lin, JP; Barwick, KE; Sa, M; Abela, L; Malhotra, S; Chong, WK; Steel, D; Sanchis-Juan, A; Ngoh, A; Trump, N; Meyer, E; Vasques, X; Rankin, J; Allain, MW; Applegate, CD; Isfahani, S Attaripour; Baleine, J; Balint, B; Bassetti, JA; Baple, EL; Bhatia, KP; Blanchet, C; Burglen, L; Cambonie, G; Seng, EC; Bastaraud, SC; Cyprien, F; Coubes, C; d'Hardemare, V; Study, Deciphering Developmental Disorders; Doja, A; Dorison, N; Doummar, D; Dy-Hollins, ME; Farrelly, E; Fitzpatrick, DR; Fearon, C; Fieg, EL; Fogel, BL; Forman, EB; Fox, RG; Consortium, Genomics England Research; Gahl, WA; Galosi, S; Gonzalez, V; Graves, TD; Gregory, A; Hallett, M; Hasegawa, H; Hayflick, SJ; Hamosh, A; Hully, M; Jansen, S; Jeong, SY; Krier, JB; Krystal, S; Kumar, KR; Laurencin, C; Lee, H; Lesca, G; François, LL; Lynch, T; Mahant, N; Martinez-Agosto, JA; Milesi, C; Mills, KA; Mondain, M; Morales-Briceno, H; BioResource, NIHR; Ostergaard, JR; Pal, S; Pallais, JC; Pavillard, F; Perrigault, PF; Petersen, AK; Polo, G; Poulen, G; Rinne, T; Roujeau, T; Rogers, C; Roubertie, A; Sahagian, M; Schaefer, E; Selim, L; Selway, R; Sharma, N; Signer, R; Soldatos, AG; Stevenson, DA; Stewart, F; Tchan, M; Network, Undiagnosed Diseases; Verma, IC; de Vries, BBA; Wilson, JL; Wong, DA; Zaitoun, R; Zhen, D; Znaczko, A; Dale, RC; de Gusmão, CM; Friedman, J; Fung, VSC; King, MD; Mohammad, SS; Rohena, L; Waugh, JL; Toro, C; Raymond, FL; Topf, M; Coubes, P; Gorman, KM; Kurian, MA
Brain. 2020 Dec 5;143(11):3242-3261
Academic Journal
Laura Ivete Rudaks; Igor Stevanovski; Dennis Yeow; Andre L. M. Reis; Sanjog R. Chintalaphani; Pak Leng Cheong; Hasindu Gamaarachchi; Lisa Worgan; Kate Ahmad; Michael Hayes; Andrew Hannaford; Samuel Kim; Victor S. C. Fung; Gabor M. Halmagyi; Andrew Martin; David Manser; Michel Tchan; Karl Ng; Marina L. Kennerson; Ira W. Deveson; Kishore Raj Kumar
Annals of Clinical and Translational Neurology, Vol 12, Iss 4, Pp 832-841 (2025)
Academic Journal
Williams, L.; Waller, S.E.; Bradley, M.; Lockhart, A.; Narayanan, R.K.; Kumar, K.R.; Morales Briceno, H.; Tchan, M.; Healy, D.G.; Fung, V.S.C.
Parkinsonism and Related Disorders. 117
Academic Journal
Jayasinghe, K; Biros, E; Harris, T; Wood, A; O'Shea, R; Hill, L; Fowles, L; Wardrop, L; Shalhoub, C; Hahn, D; Rangan, G; Kevin, L; Tchan, M; Snelling, P; Sandow, R; Sundaram, M; Chaturvedi, S; Trnka, P; Faull, R; Poplawski, NK; Huntley, V; Garza, D; Wallis, M; Jose, M; Leaver, A; Trainer, AH; Wilkins, EJ; White, S; Elbaum, Y; Prawer, Y; Krzesinski, E; Valente, G; Winship, I; Ryan, J; Whitlam, J; Nicholls, K; West, K; Donaldson, L; Johnstone, L; Lewit-Mendes, M; Kerr, PG; Bodek, S; Chakera, A; MacShane, M; Mincham, C; Stackpoole, E; Willis, F; Soraru, J; Pachter, N; Bennetts, B; Forbes, TA; Mallawaarachchi, A; Quinlan, C; Patel, C; McCarthy, H; Goranitis, I; Best, S; Alexander, S; Stark, Z; Mallett, AJ
Kidney Int Rep
Kidney International Reports, Vol 9, Iss 8, Pp 2372-2385 (2024)
Kidney International Reports, Vol 9, Iss 8, Pp 2372-2385 (2024)
Academic Journal
Sirrs, Sandra; Fabbro, Elisa; Sechi, Annalisa; Aguiar, P; Ben‐Omran, T; Bordugo, A; Brodosi, L; Cassiman, D; Akj, Chan; Chaves, P; Gerald, De Jong; Douillard, C; Durães, J; Naga, K El; Fazio, T; Faghfoury, H; Galloway, P; Glamuzina, E; Dcc, Gomes; Hollak, Ce; Hochuli, M; Horvath, G; Mch, Janssen; Kantola, I; Khan, A; Lam, Kwok M.K. Pok Fu; Lachmann, R; Langendonk, J; Langeveld, M; Lavigne, C; Lehman, A; Loughrey, C; Maillot, F; Marchi, G; Marelli, C; Mattman, A; Meersseman, W; Miller‐Hodges, E; Mochel, F; Morel, C; Murphy, E; Nimmo, G; Oliveira, Jp; Pastores, G; Pintos‐Morell, G; Prasad, C; Rahman, S; Rahman, Y; Ribeiro, R; Rockman‐Greenberg, C; Sharma, R; Stepien, Km; Tarnopolsky, M; Tchan, M; Vitturi, N; Wagenmakers, M; Wilcox, G; Ziagaki, A
JIMD Reports. September, 2022, Vol. 63 Issue 5, p468, 7 p.
Academic Journal
Melissa P. Wasserstein; Robin Lachmann; Carla Hollak; Antonio Barbato; Renata C. Gallagher; Roberto Giugliani; Norberto Bernardo Guelbert; Julia B. Hennermann; Takayuki Ikezoe; Olivier Lidove; Paulina Mabe; Eugen Mengel; Maurizio Scarpa; Ebubekir Senates; Michel Tchan; Jesus Villarrubia; Beth L. Thurberg; Abhimanyu Yarramaneni; Nicole M. Armstrong; Yong Kim; Monica Kumar
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-12 (2023)
Academic Journal
Heart, Lung and Circulation. 32:S243-S244
Academic Journal
Rachel Austin; Jaye S. Brown; Sarah Casauria; Evanthia O. Madelli; Tessa Mattiske; Tiffany Boughtwood; Alejandro Metke; Andrew Davis; Ari E. Horton; David Winlaw; Debjani Das; Magdalena Soka; Eleni Giannoulatou; Emma M. Rath; Eric Haan; Gillian M. Blue; Jitendra Vohra; John J. Atherton; Karin van Spaendonck-Zwarts; Kathy Cox; Leslie Burnett; Mathew Wallis; Matilda Haas; Michael C.J. Quinn; Nicholas Pachter; Nicola K. Poplawski; Zornitza Stark; Richard D. Bagnall; Robert G. Weintraub; Sarah-Jane Pantaleo; Sebastian Lunke; Paul De Fazio; Tina Thompson; Paul James; Yuchen Chang; Diane Fatkin; Ivan Macciocca; Jodie Ingles; Sally L. Dunwoodie; Chris Semsarian; Julie McGaughran; Lesley Ades; Annabel Enriquez; Alison McLean; Renee Smyth; Dimithu Alankarage; James McNamara; Morgan almog; Vanessa Fear; Caroline Medi; Mohammad Al-Shinnag; Miriam Fine; Raymond Sy; Keri Finlay; Di Milnes; Dotti Tang; Denisse Garza; Michael Milward; Jessica Taylor; Ansley Morrish; Shelby Taylor; Chris Barnett; Laura Gongolidis; Jim Morwood; Michel Tchan; Belinda Gray; Helen Mountain; Simon Bodek; Cassie Greer; David Mowat; Jordan Thorpe; Kirsten Boggs; Chai-Ann Ng; Alison Trainer; Michael Bogwitz; Mathilda Haas; Natalie Nowak; Gunjan Trivedi; Bernadette Hanna; Noelia Nunez Martinez; Giulia Valente; Alessandra Bray; Richard Harvey; Monique Ohanian; Marie-Jo Brion; Janette Hayward; Sinead O’Sullivan; Jamie Vandenberg; Jaye Brown; Carmen Herrera; Angela Overkov; Kunal Verma; Rob Bryson Richardson; Adam Hill; Miranda Vidgen; Georgie Hollingsworth; Chirag Patel; Charlotte Burns; Georgina Hollway; Mark Perrin; Kathryn Waddel-Smith; Michelle Cao; Matthew Perry; Will Carr; Denise Howting; Andreas Pflaumer; Peta Phillips; Meredith Wilson; Heather Chalinor; Joanne Isbister; Thuan Phuong; Matilda Jackson; Rachel Pope-Couston; Lisa Worgan; Gavin Chapman; Linda Wornham; Theosodia Charitou; Sarah Jane-Pantaleo; Preeti Punni; Kathy Wu; Belinda Chong; Renee Johnson; Laura Yeates; Felicity Collins; Andrew Kelly; Michael Quinn; Dominica Zentner; Gemma Correnti; Sarah King-Smith; Sulekha Rajagopalan; Edwin Kirk; Hariharan Raju; Fiona Cunningham; Sarah Kummerfeld; Timo Lassman; Matthew Regan; Jason Davis; Jonathon Lipton; Jonathan Rogers; Mark Ryan; Sarah Sandaradura; Michelle de Silva; Paul MacIntyre; Nicole Schonrock; Nicola Den Elzen; Paul Scuffham; Sophie Devery; Amali Mallawaarachchi; Julia Dobbins; Julia Mansour; Isabella Sherburn; Ellenore Martin; Mary-Clare Sherlock; Nathan Dwyer; Jacob Mathew; Emma Singer; Stefanie Elbracht-Leong; Carla Smerdon; David Elliott; Janine Smith
Genetics in Medicine Open, Vol 2, Iss , Pp 101842- (2024)
Academic Journal
Microbiology Spectrum, Vol 11, Iss 3 (2023)
News
allAfrica.com (French). July 25, 2017
Academic Journal
Heart, Lung and Circulation. 31:S149-S149
Academic Journal
Heart, Lung and Circulation. 30:S121-S122
Academic Journal
Kline, Brianna L.; Jaillard, Sylvie; Bell, Katrina M.; Bakhshalizadeh, Shabnam; Robevska, Gorjana; van den Bergen, Jocelyn; Dulon, Jérôme; Ayers, Katie L.; Christodoulou, John; Tchan, Michel C.; Touraine, Philippe; Sinclair, Andrew H.; Tucker, Elena J.
Genes. November, 2022, Vol. 13 Issue 11
Academic Journal
Heart, Lung and Circulation. 31:S15-S15
Academic Journal
Grünert, S.C.; Derks, T.G.; Adrian, K.; Al-Thihli, K.; Ballhausen, D.; Bidiuk, J.; Bordugo, A.; Boyer, M.; Bratkovic, D.; Brunner-Krainz, M.; Burlina, A.; Chakrapani, A.; Corpeleijn, W.; Cozens, A.; Dawson, C.; Dhamko, H.; Milosevic, M.D.; Eiroa, H.; Finezilber, Y.; de Souza, C.F.; Garcia-Jiménez, M.C.; Gasperini, S.; Haas, D.; Häberle, J.; Halligan, R.; Fung, L.H.; Hörbe-Blindt, A.; Horka, L.M.; Huemer, M.; Uçar, S.K.; Kecman, B.; Kılavuz, S.; Kriván, G.; Lindner, M.; Lüsebrink, N.; Makrilakis, K.; Mei-Kwun Kwok, A.; Maier, Emar; Maiorana, A.; McCandless, S.E.; Mitchell, J.J.; Mizumoto, H.; Mundy, H.; Ochoa, C.; Pierce, K.; Fraile, P.Q.; Regier, D.; Rossi, A; Santer, R.; Schuman, H.C.; Sobieraj, P.; Spenger, J.; Spiegel, R.; Stepien, K.M.; Tal, G.; Tanšek, M.Z.; Torkar, A.D.; Tchan, M.; Thyagu, S.; Vergano, Samantha A.; Vucko, E.; Weinhold, N.; Zsidegh, P.; Wortmann, S.B.
Grünert, S C, Derks, T G J, Adrian, K, Al-Thihli, K, Ballhausen, D, Bidiuk, J, Bordugo, A, Boyer, M , Bratkovic, D, Brunner-Krainz, M , Burlina, A, Chakrapani, A, Corpeleijn, W, Cozens, A, Dawson, C, Dhamko, H, Milosevic, M D, Eiroa, H, Finezilber, Y, Moura de Souza, C F, Garcia-Jiménez, M C, Gasperini, S, Haas, D, Häberle, J, Halligan, R, Fung, L H, Hörbe-Blindt, A, Horka, L M , Huemer, M , Uçar, S K, Kecman, B, Kilavuz, S, Kriván, G, Lindner, M , Lüsebrink, N, Makrilkakis, K, Mei-Kwun Kwok, A, Maier, E M , Maiorana, A, McCandless, S E, Mitchell, J J, Mizumoto, H, Mundy, H, Ochoa, C, Pierce, K, Fraile, P Q, Regier, D, Rossi, A, Santer, R, Schuman, H C, Sobieraj, P, Spenger, J, Spiegel, R, Stepien, K M , Tal, G, Tanšek, M Z, Torkar, A D, Tchan , M , Thyagu, S, Schrier Vergano, S A, Vucko, E, Weinhold, N, Zsidegh, P & Wortmann, S B 2022, 'Efficacy and safety of empagliflozin in glycogen storage disease type Ib : Data from an international questionnaire', Genetics in Medicine, vol. 24, no. 8, pp. 1781-1788. https://doi.org/10.1016/j.gim.2022.04.001
Genetics in Medicine, 24, 8, pp. 1781-1788
Genetics in medicine, vol. 24, no. 8, pp. 1781-1788
Genetics in Medicine, 24, 8, pp. 1781-1788
Genetics in medicine, vol. 24, no. 8, pp. 1781-1788
Academic Journal
Wasserstein M.; Lachmann R.; Hollak C.; Arash-Kaps L.; Barbato A.; Gallagher R. C.; Giugliani R.; Guelbert N. B.; Ikezoe T.; Lidove O.; Mabe P.; Mengel E.; Scarpa M.; Senates E.; Tchan M.; Villarrubia J.; Chen Y.; Furey S.; Thurberg B. L.; Zaher A.; Kumar M.
Genetics in Medicine. 24:1425-1436
Academic Journal
Schoser B.; Roberts M.; Byrne B. J.; Sitaraman S.; Jiang H.; Laforet P.; Toscano A.; Castelli J.; Diaz-Manera J.; Goldman M.; van der Ploeg A. T.; Bratkovic D.; Kuchipudi S.; Mozaffar T.; Kishnani P. S.; Sebok A.; Pestronk A.; Dominovic-Kovacevic A.; Khan A.; Koritnik B.; Tard C.; Lindberg C.; Quinn C.; Eldridge C.; Bodkin C.; Reyes-Leiva D.; Hughes D.; Stefanescu E.; SALORT-CAMPANA E.; Butler E.; Bouhour F.; Kim G.; Konstantinos Papadimas G.; Parenti G.; Bartosik-Psujek H.; Kushlaf H.; Akihiro H.; Lau H.; Pedro H.; Andersen H.; Amartino H.; Shiraishi H.; Kobayashi H.; Tarnev I.; Vengoechea J.; Avelar J.; Shin J. -H.; Cauci J.; Alonso-Perez J.; Janszky J.; Berthy J.; Cornelia K.; Gutschmidt K.; Claeys K.; Judit Molnar M.; Wencel M.; Tarnopolsky M.; Dimachkie M.; Tchan M.; Freimer M.; Longo N.; Vidal-Fernandez N.; Musumeci O.; Goker-Alpan O.; Deegan P.; Clemens P. R.; Roxburgh R.; Henderson R.; Hopkin R.; Sacconi S.; Fecarotta S.; Attarian S.; Wenninger S.; Dearmey S.; Hiwot T.; Burrow T.; Ruck T.; Sawada T.; Laszlo V.; Loscher W.; Chien Y. -H.
LANCET NEUROLOGY
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
instname
PROPEL Study Group 2021, 'Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037. https://doi.org/10.1016/S1474-4422(21)00331-8
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
Institut dInvestigació Biomèdica Sant Pau (IIB Sant Pau)
instname
PROPEL Study Group 2021, 'Safety and efficacy of cipaglucosidase alfa plus miglustat versus alglucosidase alfa plus placebo in late-onset Pompe disease (PROPEL) : an international, randomised, double-blind, parallel-group, phase 3 trial', The Lancet Neurology, vol. 20, no. 12, pp. 1027-1037. https://doi.org/10.1016/S1474-4422(21)00331-8
Academic Journal
Heart, Lung and Circulation. 29:S95-S96
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[검색어] Tchan, M.
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