日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Cognitive decline in an adult with ATR-16 syndrome due to an unbalanced translocation between 11p15.5 and 16p13.3: a case report

一例因11p15.5和16p13.3之间不平衡易位导致ATR-16综合征成人患者认知功能下降的病例报告

Krutish, Angela; Kukurudz-Gorowski, Rebekah; Borlot, Felippe; Frosk, Patrick; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A

Metabolic Control and Frequency of Clinical Monitoring Among Canadian Children With Phenylalanine Hydroxylase Deficiency: A Retrospective Cohort Study

加拿大苯丙氨酸羟化酶缺乏症患儿的代谢控制和临床监测频率:一项回顾性队列研究

Yuskiv, Nataliya; Saad, Ammar; Potter, Beth K; Stockler-Ipsiroglu, Sylvia; Mitchell, John J; Hawken, Steven; Tingley, Kylie; Pugliese, Michael; Lamoureux, Monica; Chow, Andrea J; Kronick, Jonathan B; Wilson, Kumanan; Feigenbaum, Annette; Goobie, Sharan; Inbar-Feigenberg, Michal; Little, Julian; Mercimek-Andrews, Saadet; Pender, Amy; Prasad, Chitra; Schulze, Andreas; Trakadis, Yannis; Ho, Gloria; Vallance, Hilary; Austin, Valerie; Vandersteen, Anthony; Yu, Andrea C; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A; Chakraborty, Pranesh

Review of clinical trials and guidelines for children and youth with mucopolysaccharidosis: outcome selection and measurement

粘多糖贮积症儿童和青少年临床试验及指南综述:结局指标的选择和测量

Howie, Alison H; Tingley, Kylie; Inbar-Feigenberg, Michal; Mitchell, John J; Angel, Kim; Gentle, Jenifer; Smith, Maureen; Offringa, Martin; Butcher, Nancy J; Campeau, Philippe M; Chakraborty, Pranesh; Chan, Alicia; Fergusson, Dean; Mamak, Eva; McClelland, Peyton; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Moazin, Zeinab; Rockman-Greenberg, Cheryl; Rupar, C Anthony; Skidmore, Becky; Stockler, Sylvia; Thavorn, Kednapa; Wyatt, Alexandra; Potter, Beth K

Assessing the quality and value of metabolic chart data for capturing core outcomes for pediatric medium-chain acyl-CoA dehydrogenase (MCAD) deficiency

评估代谢图数据在捕捉儿童中链酰基辅酶A脱氢酶(MCAD)缺乏症核心结局方面的质量和价值

Iverson, Ryan; Taljaard, Monica; Geraghty, Michael T; Pugliese, Michael; Tingley, Kylie; Coyle, Doug; Kronick, Jonathan B; Wilson, Kumanan; Austin, Valerie; Brunel-Guitton, Catherine; Buhas, Daniela; Butcher, Nancy J; Chan, Alicia K J; Dyack, Sarah; Goobie, Sharan; Greenberg, Cheryl R; Jain-Ghai, Shailly; Inbar-Feigenberg, Michal; Karp, Natalya; Kozenko, Mariya; Langley, Erica; Lines, Matthew; Little, Julian; MacKenzie, Jennifer; Maranda, Bruno; Mercimek-Andrews, Saadet; Mhanni, Aizeddin; Mitchell, John J; Nagy, Laura; Offringa, Martin; Pender, Amy; Potter, Murray; Prasad, Chitra; Ratko, Suzanne; Salvarinova, Ramona; Schulze, Andreas; Siriwardena, Komudi; Sondheimer, Neal; Sparkes, Rebecca; Stockler-Ipsiroglu, Sylvia; Tapscott, Kendra; Trakadis, Yannis; Turner, Lesley; Van Karnebeek, Clara; Vandersteen, Anthony; Walia, Jagdeep S; Wilson, Brenda J; Yu, Andrea C; Potter, Beth K; Chakraborty, Pranesh

A novel WFS1 variant associated with isolated congenital cataracts

一种与孤立性先天性白内障相关的新型WFS1变异

Krutish, Angela; Elmore, James; Ilse, Werner; Johnston, Janine L; Hittel, Dustin; Kerr, Marina; Khan, Aneal; Rockman-Greenberg, Cheryl; Mhanni, Aizeddin A

A previously undescribed pathogenic variant in FBN1 gene causing Marfan syndrome: a case report

一种先前未描述的FBN1基因致病变异导致马凡综合征:病例报告

Suliman, Asem; Yan, Weiang; Yamashita, Michael H; Krentz, Anthony D; Mhanni, Aizeddin; Garber, Philip J

Prenatal onset of the neuroradiologic phenotype of pyruvate carboxylase deficiency due to homozygous PC c.1828G > A mutations

纯合子PC c.1828G > A突变导致的丙酮酸羧化酶缺乏症神经放射学表型的产前发病

Mhanni, Aizeddin A; Rockman-Greenberg, Cheryl; Ryner, Lawrence; Bunge, Martin

Prenatal hydrops fetalis associated with infantile free sialic acid storage disease due to a novel homozygous deletion in the SLC17A5 gene

胎儿产前水肿与婴儿游离唾液酸贮积症相关,该病由SLC17A5基因中一种新的纯合缺失引起

Hasnain, Afia; Burnett, Sherri; Agatep, Ronald; Spriggs, Elizabeth; Chodirker, Bernard; Mhanni, Aizeddin Aziz A

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 Metabolic Diseases Research Network

评估加拿大遗传代谢病患儿队列临床数据收集质量:从加拿大遗传代谢病研究网络汲取的经验教训

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

Therapeutic challenges in two adolescent male patients with Fabry disease and high antibody titres

两名患有法布里病且抗体滴度高的青少年男性患者的治疗挑战

Mhanni, Aizeddin A; Auray-Blais, Christiane; Boutin, Michel; Johnston, Alie; LeMoine, Kaye; Patterson, Jill; Aerts, Johannes M F G; West, Michael L; Rockman-Greenberg, Cheryl