檢索結果 - Inbar-Feigenberg, Michal

Ataxia and confusion in a 10-year-old girl 由 Chan, Calvin C H, Kukreti, Vinay, Inbar-Feigenberg, Michal, Adrian-Gutierrez, Javier

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Use of waxy maize heat modified starch in the treatment of children between 2 and 5 years with glycogen storage disease type I: A retrospective study 由 Hijazi, Ghada, Pai, Nisha, Nagy, Laura L., Herd, Sarah, Dickson, Jolynn, Ram, Maya, Inbar-Feigenberg, Michal

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Genome sequencing identifies a rare case of moderate Zellweger spectrum disorder caused by a PEX3 defect: Case report and literature review 由 Lee, Whiwon, Costain, Gregory, Blaser, Susan, Walker, Susan, Marshall, Christian R., Gonorazky, Hernan, Inbar-Feigenberg, Michal

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Severe cystic degeneration and intractable seizures in a newborn with molybdenum cofactor deficiency type B 由 Hannah-Shmouni, Fady, MacNeil, Lauren, Potter, Murray, Jobling, Rebekah, Yoon, Grace, Laughlin, Suzanne, Blaser, Susan, Inbar-Feigenberg, Michal

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Challenges in Diagnosing Rare Genetic Causes of Common In Utero Presentations: Report of Two Patients with Mucolipidosis Type II (I-Cell Disease) 由 Costain, Gregory, Inbar-Feigenberg, Michal, Saleh, Maha, Yaniv-Salem, Shimrit, Ryan, Greg, Morgen, Eric, Goh, Elaine S., Nishimura, Gen, Chitayat, David

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Sustained immune tolerance induction in enzyme replacement therapy–treated CRIM-negative patients with infantile Pompe disease 由 Kazi, Zoheb B., Desai, Ankit K., Berrier, Kathryn L., Troxler, R. Bradley, Wang, Raymond Y., Abdul-Rahman, Omar A., Tanpaiboon, Pranoot, Mendelsohn, Nancy J., Herskovitz, Eli, Kronn, David, Inbar-Feigenberg, Michal, Ward-Melver, Catherine, Polan, Michelle, Gupta, Punita, Rosenberg, Amy S., Kishnani, Priya S.

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Glycerol phenylbutyrate efficacy and safety from an open label study in pediatric patients under 2 months of age with urea cycle disorders 由 Longo, Nicola, Diaz, George A., Lichter-Konecki, Uta, Schulze, Andreas, Inbar-Feigenberg, Michal, Conway, Robert L., Bannick, Allison A., McCandless, Shawn E., Zori, Roberto, Hainline, Bryan, Mew, Nicholas Ah, Canavan, Colleen, Vescio, Thomas, Kok, Teresa, Porter, Marty H., Berry, Susan A.

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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 由 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... 由 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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CHARGE and Kabuki Syndromes: Gene-Specific DNA Methylation Signatures Identify Epigenetic Mechanisms Linking These Clinically Overlapping Conditions 由 Butcher, Darci T., Cytrynbaum, Cheryl, Turinsky, Andrei L., Siu, Michelle T., Inbar-Feigenberg, Michal, Mendoza-Londono, Roberto, Chitayat, David, Walker, Susan, Machado, Jerry, Caluseriu, Oana, Dupuis, Lucie, Grafodatskaya, Daria, Reardon, William, Gilbert-Dussardier, Brigitte, Verloes, Alain, Bilan, Frederic, Milunsky, Jeff M., Basran, Raveen, Papsin, Blake, Stockley, Tracy L., Scherer, Stephen W., Choufani, Sanaa, Brudno, Michael, Weksberg, Rosanna

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Family Experiences with Care for Children with Inherited Metabolic Diseases in Canada: A Cross-Sectional Survey 由 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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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... 由 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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Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test 由 Lionel, Anath C, Costain, Gregory, Monfared, Nasim, Walker, Susan, Reuter, Miriam S, Hosseini, S Mohsen, Thiruvahindrapuram, Bhooma, Merico, Daniele, Jobling, Rebekah, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Sung, Wilson W L, Wang, Zhuozhi, Bikangaga, Peter, Boelman, Cyrus, Carter, Melissa T, Cordeiro, Dawn, Cytrynbaum, Cheryl, Dell, Sharon D, Dhir, Priya, Dowling, James J, Heon, Elise, Hewson, Stacy, Hiraki, Linda, Inbar-Feigenberg, Michal, Klatt, Regan, Kronick, Jonathan, Laxer, Ronald M, Licht, Christoph, MacDonald, Heather, Mercimek-Andrews, Saadet, Mendoza-Londono, Roberto, Piscione, Tino, Schneider, Rayfel, Schulze, Andreas, Silverman, Earl, Siriwardena, Komudi, Snead, O Carter, Sondheimer, Neal, Sutherland, Joanne, Vincent, Ajoy, Wasserman, Jonathan D, Weksberg, Rosanna, Shuman, Cheryl, Carew, Chris, Szego, Michael J, Hayeems, Robin Z, Basran, Raveen, Stavropoulos, Dimitri J, Ray, Peter N, Bowdin, Sarah, Meyn, M Stephen, Cohn, Ronald D, Scherer, Stephen W, Marshall, Christian R

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Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine 由 Stavropoulos, Dimitri J, Merico, Daniele, Jobling, Rebekah, Bowdin, Sarah, Monfared, Nasim, Thiruvahindrapuram, Bhooma, Nalpathamkalam, Thomas, Pellecchia, Giovanna, Yuen, Ryan K C, Szego, Michael J, Hayeems, Robin Z, Shaul, Randi Zlotnik, Brudno, Michael, Girdea, Marta, Frey, Brendan, Alipanahi, Babak, Ahmed, Sohnee, Babul-Hirji, Riyana, Porras, Ramses Badilla, Carter, Melissa T, Chad, Lauren, Chaudhry, Ayeshah, Chitayat, David, Doust, Soghra Jougheh, Cytrynbaum, Cheryl, Dupuis, Lucie, Ejaz, Resham, Fishman, Leona, Guerin, Andrea, Hashemi, Bita, Helal, Mayada, Hewson, Stacy, Inbar-Feigenberg, Michal, Kannu, Peter, Karp, Natalya, Kim, Raymond H, Kronick, Jonathan, Liston, Eriskay, MacDonald, Heather, Mercimek-Mahmutoglu, Saadet, Mendoza-Londono, Roberto, Nasr, Enas, Nimmo, Graeme, Parkinson, Nicole, Quercia, Nada, Raiman, Julian, Roifman, Maian, Schulze, Andreas, Shugar, Andrea, Shuman, Cheryl, Sinajon, Pierre, Siriwardena, Komudi, Weksberg, Rosanna, Yoon, Grace, Carew, Chris, Erickson, Raith, Leach, Richard A, Klein, Robert, Ray, Peter N, Meyn, M Stephen, Scherer, Stephen W, Cohn, Ronald D, Marshall, Christian R

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