Efficacy and safety of deflazacort vs prednisone and placebo for Duchenne muscular dystrophy von Griggs, Robert C, Miller, J Phillip, Greenberg, Cheryl R, Fehlings, Darcy L, Pestronk, Alan, Mendell, Jerry R, Moxley, Richard T, King, Wendy, Kissel, John T, Cwik, Valerie, Vanasse, Michel, Florence, Julaine M, Pandya, Shree, Dubow, Jordan S, Meyer, James M

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Diagnosis and management of glutaric aciduria type I – revised recommendations von Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter

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Family‐centred care interventions for children with chronic conditions: A scoping review von Chow, Andrea J., Saad, Ammar, Al‐Baldawi, Zobaida, Iverson, Ryan, Skidmore, Becky, Jordan, Isabel, Pallone, Nicole, Smith, Maureen, Chakraborty, Pranesh, Brehaut, Jamie, Cohen, Eyal, Dyack, Sarah, Gillis, Jane, Goobie, Sharan, Greenberg, Cheryl R., Hayeems, Robin, Hutton, Brian, Inbar‐Feigenberg, Michal, Jain‐Ghai, Shailly, Khangura, Sara, MacKenzie, Jennifer J., Mitchell, John J., Moazin, Zeinab, Nicholls, Stuart G., Pender, Amy, Prasad, Chitra, Schulze, Andreas, Siriwardena, Komudi, Sparkes, Rebecca N., Speechley, Kathy N., Stockler, Sylvia, Taljaard, Monica, Teitelbaum, Mari, Trakadis, Yannis, Van Karnebeek, Clara, Walia, Jagdeep S., Wilson, Kumanan, Potter, Beth K.

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Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review von 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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Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome von Armistead, Joy, Khatkar, Sunita, Meyer, Britta, Mark, Brian L., Patel, Nehal, Coghlan, Gail, Lamont, Ryan E., Liu, Shuangbo, Wiechert, Jill, Cattini, Peter A., Koetter, Peter, Wrogemann, Klaus, Greenberg, Cheryl R., Entian, Karl-Dieter, Zelinski, Teresa, Triggs-Raine, Barbara

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Carnitine palmitoyltransferase 1A (CPT1A) P479L prevalence in live newborns in Yukon, Northwest Territories, and Nunavut von Collins, Sorcha A., Sinclair, Graham, McIntosh, Sarah, Bamforth, Fiona, Thompson, Robert, Sobol, Isaac, Osborne, Geraldine, Corriveau, Andre, Santos, Maria, Hanley, Brendan, Greenberg, Cheryl R., Vallance, Hilary, Arbour, Laura

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision von Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan

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Establishing core outcome sets for phenylketonuria (PKU) and medium-chain Acyl-CoA dehydrogenase (MCAD) deficiency in children: study protocol for systematic reviews and Delphi sur... von Potter, Beth K, Hutton, Brian, Clifford, Tammy J, Pallone, Nicole, Smith, Maureen, Stockler, Sylvia, Chakraborty, Pranesh, Barbeau, Pauline, Garritty, Chantelle M, Pugliese, Michael, Rahman, Alvi, Skidmore, Becky, Tessier, Laure, Tingley, Kylie, Coyle, Doug, Greenberg, Cheryl R, Korngut, Lawrence, MacKenzie, Alex, Mitchell, John J, Nicholls, Stuart, Offringa, Martin, Schulze, Andreas, Taljaard, Monica

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Complementary dietary treatment using lysine-free, arginine-fortified amino acid supplements in glutaric aciduria type I — A decade of experience von Kölker, Stefan, Boy, S.P. Nikolas, Heringer, Jana, Müller, Edith, Maier, Esther M., Ensenauer, Regina, Mühlhausen, Chris, Schlune, Andrea, Greenberg, Cheryl R., Koeller, David M., Hoffmann, Georg F., Haege, Gisela, Burgard, Peter

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Enzyme-Replacement Therapy in Life-Threatening Hypophosphatasia von Whyte, Michael P, Greenberg, Cheryl R, Salman, Nada J, Bober, Michael B, McAlister, William H, Wenkert, Deborah, Van Sickle, Bradley J, Simmons, Jill H, Edgar, Terence S, Bauer, Martin L, Hamdan, Mohamed A, Bishop, Nick, Lutz, Richard E, McGinn, Mairead, Craig, Stanley, Moore, Jean N, Taylor, John W, Cleveland, Robert H, Cranley, William R, Lim, Ruth, Thacher, Tom D, Mayhew, Jill E, Downs, Matthew, Millán, José Luis, Skrinar, Alison M, Crine, Philippe, Landy, Hal

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Expression of X-linked bulbospinal muscular atrophy (Kennedy disease) in two homozygous women von SCHMIDT, Brian J, GREENBERG, Cheryl R, ALLINGHAM-HAWKINS, Diane J, SPRIGGS, Elizabeth L

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The paradox of the carnitine palmitoyltransferase type Ia P479L variant in Canadian Aboriginal populations von Greenberg, Cheryl R., Dilling, Louise A., Thompson, G. Robert, Seargeant, Lorne E., Haworth, James C., Phillips, Susan, Chan, Alicia, Vallance, Hilary D., Waters, Paula J., Sinclair, Graham, Lillquist, Yolanda, Wanders, Ronald J.A., Olpin, Simon E.

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Ketogenic Diet in Alpers-Huttenlocher Syndrome von Joshi, Charuta N., MBBS, Greenberg, Cheryl R., MD, CM, Mhanni, Aizeddin A., MD, PhD, Salman, Michael S., MBBS, PhD

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Outcome of Perinatal Hypophosphatasia in Manitoba Mennonites: A Retrospective Cohort Analysis von Leung, Edward C. W., Mhanni, Aizeddin A., Reed, Martin, Whyte, Michael P., Landy, Hal, Greenberg, Cheryl R.

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Development of a Population-Based Newborn Screening Method for Severe Combined Immunodeficiency in Manitoba, Canada von Thompson, J. Robert, Greenberg, Cheryl R., Dick, Andrew, Jilkina, Olga, Kwan, Luvinia, Rubin, Tamar S., Zelinski, Teresa, Schroeder, Marlis L., Van Caeseele, Paul

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Core Outcome Sets for Medium-Chain Acyl-CoA Dehydrogenase Deficiency and Phenylketonuria von Pugliese, Michael, Tingley, Kylie, Chow, Andrea, Pallone, Nicole, Smith, Maureen, Chakraborty, Pranesh, Geraghty, Michael T, Irwin, Julie K, Mitchell, John J, Stockler, Sylvia, Nicholls, Stuart G, Offringa, Martin, Rahman, Alvi, Tessier, Laure A, Butcher, Nancy J, Iverson, Ryan, Lamoureux, Monica, Clifford, Tammy J, Hutton, Brian, Paik, Karen, Tao, Jessica, Skidmore, Becky, Coyle, Doug, Duddy, Kathleen, Dyack, Sarah, Greenberg, Cheryl R, Jain Ghai, Shailly, Karp, Natalya, Korngut, Lawrence, Kronick, Jonathan, MacKenzie, Alex, MacKenzie, Jennifer, Maranda, Bruno, Potter, Murray, Prasad, Chitra, Schulze, Andreas, Sparkes, Rebecca, Taljaard, Monica, Trakadis, Yannis, Walia, Jagdeep, Potter, Beth K

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A novel mutation in KIAA0196: identification of a gene involved in Ritscher–Schinzel/3C syndrome in a First Nations cohort von Elliott, Alison M, Simard, Louise R, Coghlan, Gail, Chudley, Albert E, Chodirker, Bernard N, Greenberg, Cheryl R, Burch, Tanya, Ly, Valentina, Hatch, Grant M, Zelinski, Teresa

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TMEM237 Is Mutated in Individuals with a Joubert Syndrome Related Disorder and Expands the Role of the TMEM Family at the Ciliary Transition Zone von Huang, Lijia, Szymanska, Katarzyna, Jensen, Victor L., Janecke, Andreas R., Innes, A. Micheil, Davis, Erica E., Frosk, Patrick, Li, Chunmei, Willer, Jason R., Chodirker, Bernard N., Greenberg, Cheryl R., McLeod, D. Ross, Bernier, Francois P., Chudley, Albert E., Müller, Thomas, Shboul, Mohammad, Logan, Clare V., Loucks, Catrina M., Beaulieu, Chandree L., Bowie, Rachel V., Bell, Sandra M., Adkins, Jonathan, Zuniga, Freddi I., Ross, Kevin D., Wang, Jian, Ban, Matthew R., Becker, Christian, Nürnberg, Peter, Douglas, Stuart, Craft, Cheryl M., Akimenko, Marie-Andree, Hegele, Robert A., Ober, Carole, Utermann, Gerd, Bolz, Hanno J., Bulman, Dennis E., Katsanis, Nicholas, Blacque, Oliver E., Doherty, Dan, Parboosingh, Jillian S., Leroux, Michel R., Johnson, Colin A., Boycott, Kym M.

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Reflex Seizures in a Patient with CDKL5 Deficiency Disorder von Peikes, Tyler, Hartley, Jessica N., Mhanni, Aizeddin A., Greenberg, Cheryl R., Appendino, Juan Pablo

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Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype von Strijack, Bradford, Ariyarajah, Vignendra, Soni, Reeni, Jassal, Davinder S, Greenberg, Cheryl R, McGregor, Robert, Morris, Andrew

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