Resultados da pesquisa - Sparkes, Rebecca

PHKA2 variants expand the phenotype of phosphorylase B kinase deficiency to include patients with ketotic hypoglycemia only Por Benner, Anne, Alhaidan, Yazeid, Lines, Matthew A., Brusgaard, Klaus, De Leon, Diva D., Sparkes, Rebecca, Frederiksen, Anja L., Christesen, Henrik T.

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Cardiopulmonary Exercise Testing Reflects Improved Exercise Capacity in Response to Treatment in Morquio A Patients: Results of a 52-Week Pilot Study of Two Different Doses of Elos... Por Berger, Kenneth I., Burton, Barbara K., Lewis, Gregory D., Tarnopolsky, Mark, Harmatz, Paul R., Mitchell, John J., Muschol, Nicole, Jones, Simon A., Sutton, V. Reid, Pastores, Gregory M., Lau, Heather, Sparkes, Rebecca, Shaywitz, Adam J.

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Mutations in MAGT1 lead to a glycosylation disorder with a variable phenotype Por Blommaert, Eline, Péanne, Romain, Cherepanova, Natalia A., Rymen, Daisy, Staels, Frederik, Jaeken, Jaak, Race, Valérie, Keldermans, Liesbeth, Souche, Erika, Corveleyn, Anniek, Sparkes, Rebecca, Bhattacharya, Kaustuv, Devalck, Christine, Schrijvers, Rik, Foulquier, François, Gilmore, Reid, Matthijs, Gert

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Impact of Elosulfase Alfa on Pain in Patients with Morquio A Syndrome over 52 Weeks: MOR-008: A Randomized, Double-Blind, Pilot Study Por Treadwell, Marsha, Harmatz, Paul R., Burton, Barbara K., Mitchell, John J., Muschol, Nicole, Jones, Simon A., Pastores, Gregory M., Lau, Heather A., Sparkes, Rebecca, Sutton, V. Reid, Meesen, Bianca, Haller, Christine A., Shaywitz, Adam J., Gold, Jeffrey I.

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Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surveys Por Howie, Alison H., Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J., Butcher, Nancy J., Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M., Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K.

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Correction to: Establishing a core outcome set for mucopolysaccharidoses (MPS) in children: study protocol for a rapid literature review, candidate outcomes survey, and Delphi surv... Por Howie, Alison H., Tingley, Kylie, Inbar-Feigenberg, Michal, Mitchell, John J., Butcher, Nancy J., Offringa, Martin, Smith, Maureen, Angel, Kim, Gentle, Jenifer, Wyatt, Alexandra, Campeau, Philippe M., Chan, Alicia, Chakraborty, Pranesh, El Turk, Farah, Mamak, Eva, Mhanni, Aizeddin, Skidmore, Becky, Sparkes, Rebecca, Stockler, Sylvia, Potter, Beth K.

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Scoping review of patient- and family-oriented outcomes and measures for chronic pediatric disease Por Khangura, Sara D, Karaceper, Maria D, Trakadis, Yannis, Mitchell, John J, Chakraborty, Pranesh, Tingley, Kylie, Coyle, Doug, Grosse, Scott D, Kronick, Jonathan B, Laberge, Anne-Marie, Little, Julian, Prasad, Chitra, Sikora, Lindsey, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy N, Stockler, Sylvia, Wilson, Brenda J, Wilson, Kumanan, Zayed, Reem, Potter, Beth K

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Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey Por Chow, Andrea J., Pugliese, Michael, Tessier, Laure A., Chakraborty, Pranesh, Iverson, Ryan, Coyle, Doug, Kronick, Jonathan B., Wilson, Kumanan, Hayeems, Robin, Al-Hertani, Walla, Inbar-Feigenberg, Michal, Jain-Ghai, Shailly, Laberge, Anne-Marie, Little, Julian, Mitchell, John J., Prasad, Chitra, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy N., Stockler, Sylvia, Trakadis, Yannis, Walia, Jagdeep S., Wilson, Brenda J., Potter, Beth K.

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Computational Prediction of Position Effects of Apparently Balanced Human Chromosomal Rearrangements Por Zepeda-Mendoza, Cinthya J., Ibn-Salem, Jonas, Kammin, Tammy, Harris, David J., Rita, Debra, Gripp, Karen W., MacKenzie, Jennifer J., Gropman, Andrea, Graham, Brett, Shaheen, Ranad, Alkuraya, Fowzan S., Brasington, Campbell K., Spence, Edward J., Masser-Frye, Diane, Bird, Lynne M., Spiegel, Erica, Sparkes, Rebecca L., Ordulu, Zehra, Talkowski, Michael E., Andrade-Navarro, Miguel A., Robinson, Peter N., Morton, Cynthia C.

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Experiences of caregivers of children with inherited metabolic diseases: a qualitative study Por Siddiq, Shabnaz, Wilson, Brenda J., Graham, Ian D., Lamoureux, Monica, Khangura, Sara D., Tingley, Kylie, Tessier, Laure, Chakraborty, Pranesh, Coyle, Doug, Dyack, Sarah, Gillis, Jane, Greenberg, Cheryl, Hayeems, Robin Z., Jain-Ghai, Shailly, Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Mitchell, John J., Prasad, Chitra, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy N., Stockler, Sylvia, Trakadis, Yannis, Wafa, Sarah, Walia, Jagdeep, Wilson, Kumanan, Yuskiv, Nataliya, Potter, Beth K.

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Health services use among children diagnosed with medium-chain acyl-CoA dehydrogenase deficiency through newborn screening: a cohort study in Ontario, Canada Por Karaceper, Maria D., Khangura, Sara D., Wilson, Kumanan, Coyle, Doug, Brownell, Marni, Davies, Christine, Dodds, Linda, Feigenbaum, Annette, Fell, Deshayne B., Grosse, Scott D., Guttmann, Astrid, Hawken, Steven, Hayeems, Robin Z., Kronick, Jonathan B., Laberge, Anne-Marie, Little, Julian, Mhanni, Aizeddin, Mitchell, John J., Nakhla, Meranda, Potter, Murray, Prasad, Chitra, Rockman-Greenberg, Cheryl, Sparkes, Rebecca, Stockler, Sylvia, Ueda, Keiko, Vallance, Hilary, Wilson, Brenda J., Chakraborty, Pranesh, Potter, Beth K.

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review Por Pugliese, Michael, Tingley, Kylie, Chow, Andrea, Pallone, Nicole, Smith, Maureen, Rahman, Alvi, Chakraborty, Pranesh, Geraghty, Michael T., Irwin, Julie, Tessier, Laure, Nicholls, Stuart G., Offringa, Martin, Butcher, Nancy J., Iverson, Ryan, Clifford, Tammy J., Stockler, Sylvia, Hutton, Brian, Paik, Karen, Tao, Jessica, Skidmore, Becky, Coyle, Doug, Duddy, Kathleen, Dyack, Sarah, Greenberg, Cheryl R., Ghai, Shailly Jain, Karp, Natalya, Korngut, Lawrence, Kronick, Jonathan, MacKenzie, Alex, MacKenzie, Jennifer, Maranda, Bruno, Mitchell, John J., Potter, Murray, Prasad, Chitra, Schulze, Andreas, Sparkes, Rebecca, Taljaard, Monica, Trakadis, Yannis, Walia, Jagdeep, Potter, Beth K.

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Families’ healthcare experiences for children with inherited metabolic diseases: protocol for a mixed methods cohort study Por Chow, Andrea J, Iverson, Ryan, Lamoureux, Monica, Tingley, Kylie, Jordan, Isabel, Pallone, Nicole, Smith, Maureen, Al-Baldawi, Zobaida, Chakraborty, Pranesh, Brehaut, Jamie, Chan, Alicia, Cohen, Eyal, Dyack, Sarah, Gillis, Lisa Jane, Goobie, Sharan, Graham, Ian D, Greenberg, Cheryl R, Grimshaw, Jeremy M, Hayeems, Robin Z, Jain-Ghai, Shailly, Jolly, Ann, Khangura, Sara, MacKenzie, Jennifer J, Major, Nathalie, Mitchell, John J, Nicholls, Stuart G, Pender, Amy, Potter, Murray, Prasad, Chitra, Prosser, Lisa A, Schulze, Andreas, Siriwardena, Komudi, Sparkes, Rebecca, Speechley, Kathy, Stockler, Sylvia, Taljaard, Monica, Teitelbaum, Mari, Trakadis, Yannis, van Karnebeek, Clara, Walia, Jagdeep S, Wilson, Brenda J, Wilson, Kumanan, Potter, Beth K

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Evaluation of the quality of clinical data collection for a pan-Canadian cohort of children affected by inherited metabolic diseases: lessons learned from the Canadian Inherited Me... Por Tingley, Kylie, Lamoureux, Monica, Pugliese, Michael, Geraghty, Michael T., Kronick, Jonathan B., Potter, Beth K., Coyle, Doug, Wilson, Kumanan, Kowalski, Michael, Austin, Valerie, Brunel-Guitton, Catherine, Buhas, Daniela, Chan, Alicia K. J., Dyack, Sarah, Feigenbaum, Annette, Giezen, Alette, Goobie, Sharan, Greenberg, Cheryl R., Ghai, Shailly Jain, Inbar-Feigenberg, Michal, Karp, Natalya, Kozenko, Mariya, Langley, Erica, Lines, Matthew, Little, Julian, MacKenzie, Jennifer, Maranda, Bruno, Mercimek-Andrews, Saadet, Mohan, Connie, Mhanni, Aizeddin, Mitchell, Grant, Mitchell, John J., Nagy, Laura, Napier, Melanie, Pender, Amy, Potter, Murray, Prasad, Chitra, Ratko, Suzanne, Salvarinova, Ramona, Schulze, Andreas, Siriwardena, Komudi, Sondheimer, Neal, Sparkes, Rebecca, Stockler-Ipsiroglu, Sylvia, Trakadis, Yannis, Turner, Lesley, Van Karnebeek, Clara, Vallance, Hilary, Vandersteen, Anthony, Walia, Jagdeep, Wilson, Ashley, Wilson, Brenda J., Yu, Andrea C., Yuskiv, Nataliya, Chakraborty, Pranesh

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The Genomic Landscape of Balanced Cytogenetic Abnormalities Associated with Human Congenital Anomalies Por Redin, Claire, Brand, Harrison, Collins, Ryan L., Kammin, Tammy, Mitchell, Elyse, Hodge, Jennelle C., Hanscom, Carrie, Pillalamarri, Vamsee, Seabra, Catarina M., Abbott, Mary-Alice, Abdul-Rahman, Omar A., Aberg, Erika, Adley, Rhett, Alcaraz-Estrada, Sofia L., Alkuraya, Fowzan S., An, Yu, Anderson, Mary-Anne, Antolik, Caroline, Anyane-Yeboa, Kwame, Atkin, Joan F., Bartell, Tina, Bernstein, Jonathan A., Beyer, Elizabeth, Blumenthal, Ian, Bongers, Ernie M.H.F., Brilstra, Eva H., Brown, Chester W., Brüggenwirth, Hennie T., Callewaert, Bert, Chiang, Colby, Corning, Ken, Cox, Helen, Cuppen, Edwin, Currall, Benjamin B., Cushing, Tom, David, Dezso, Deardorff, Matthew A., Dheedene, Annelies, D’Hooghe, Marc, de Vries, Bert B.A., Earl, Dawn L., Ferguson, Heather L., Fisher, Heather, FitzPatrick, David R., Gerrol, Pamela, Giachino, Daniela, Glessner, Joseph T., Gliem, Troy, Grady, Margo, Graham, Brett H., Griffis, Cristin, Gripp, Karen W., Gropman, Andrea L., Hanson-Kahn, Andrea, Harris, David J., Hayden, Mark A., Hill, Rosamund, Hochstenbach, Ron, Hoffman, Jodi D., Hopkin, Robert J., Hubshman, Monika W., Innes, A. Micheil, Irons, Mira, Irving, Melita, Jacobsen, Jessie C., Janssens, Sandra, Jewett, Tamison, Johnson, John P., Jongmans, Marjolijn C., Kahler, Stephen G., Koolen, David A., Korzelius, Jerome, Kroisel, Peter M., Lacassie, Yves, Lawless, William, Lemyre, Emmanuelle, Leppig, Kathleen, Levin, Alex V., Li, Haibo, Li, Hong, Liao, Eric C., Lim, Cynthia, Lose, Edward J., Lucente, Diane, Macera, Michael J., Manavalan, Poornima, Mandrile, Giorgia, Marcelis, Carlo L., Margolin, Lauren, Mason, Tamara, Masser-Frye, Diane, McClellan, Michael W., Zepeda Mendoza, Cinthya J., Menten, Björn, Middelkamp, Sjors, Mikami, Liya R., Moe, Emily, Mohammed, Shehla, Mononen, Tarja, Mortenson, Megan E., Moya, Graciela, Nieuwint, Aggie W., Ordulu, Zehra, Parkash, Sandhya, Pauker, Susan P., Pereira, Shahrin, Perrin, Danielle, Phelan, Katy, Piña Aguilar, Raul E., Poddighe, Pino J., Pregno, Giulia, Raskin, Salmo, Reis, Linda, Rhead, William, Rita, Debra, Renkens, Ivo, Roelens, Filip, Ruliera, Jayla, Rump, Patrick, Schilit, Samantha L.P., Shaheen, Ranad, Sparkes, Rebecca, Spiegel, Erica, Stevens, Blair, Stone, Matthew R., Tagoe, Julia, Thakuria, Joseph V., van Bon, Bregje W., van de Kamp, Jiddeke, van Der Burgt, Ineke, van Essen, Ton, van Ravenswaaij-Arts, Conny M., van Roosmalen, Markus J., Vergult, Sarah, Volker-Touw, Catharina M.L., Warburton, Dorothy P., Waterman, Matthew J., Wiley, Susan, Wilson, Anna, Yerena-de Vega, Maria de la Concepcion A., Zori, Roberto T., Levy, Brynn, Brunner, Han G., de Leeuw, Nicole, Kloosterman, Wigard P., Thorland, Erik C., Morton, Cynthia C., Gusella, James F., Talkowski, Michael E.

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