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

Quantitative Succinylacetone Measurement by Gas Chromatography-Tandem Mass Spectrometry (GC-MS/MS) Facilitates Diagnosis, Monitoring, and Characterization of Tyrosinemia Type 1 and Other Hypersuccinylacetonemias

利用气相色谱-串联质谱法(GC-MS/MS)定量测定琥珀酰丙酮有助于诊断、监测和表征1型酪氨酸血症和其他高琥珀酰丙酮血症

Cyr, Denis; Maranda, Bruno; Waters, Paula J

Metabolic reprogramming of the neovascular niche promotes regenerative angiogenesis in proliferative retinopathy.

新生血管微环境的代谢重编程促进增殖性视网膜病变中的再生血管生成

Cagnone Gael, Pundir Sheetal, Betus Charlotte, Agnihotri Tapan, Ren Anli, -Kim Jin Sung, Harvey Noémie-Rose, Heckel Emilie, Chen Mei Xi, Situ Anu, Gaub Perrine, Kim Nicholas, Das Ashim, Leclerc Severine, Wünnemann Florian, Berillon Louis, Andelfinger Gregor, Crespo-Garcia Sergio, Dubrac Alexandre, Rezende Flavio A, Clish Clary B, Maranda Bruno, Rivera José Carlos, Smith Lois E H, Sapieha Przemyslaw, Joyal Jean-Sébastien

PMS2 c.2117del (p.Lys706Serfs*19) is the Most Frequent Cancer-Associated Founder Pathogenic Variant in the French-Canadian Population of Quebec, Canada

PMS2 c.2117del (p.Lys706Serfs*19) 是加拿大魁北克省法裔人群中最常见的与癌症相关的创始致病变异。

Chong, Anne-Laure; Mejia-Garcia, Alejandro; Behl, Supriya; El Haffaf, Zaki; Chénier, Sébastien; Maranda, Bruno; Désilets, Valérie; Lévesque, Sébastien; Castonguay, Lysanne; Mes-Masson, Anne-Marie; Giroux, Sylvie; Rousseau, François; Hamel, Nancy; Chong, George; Gravel, Simon; Foulkes, William D

UPLC-MS/MS High-Risk Screening for Sphingolipidoses Using Dried Urine Spots.

利用干燥尿斑进行UPLC-MS/MS高风险鞘脂沉积症筛查

Martineau Tristan, Maranda Bruno, Auray-Blais Christiane

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

Enhanced differentiation between 3-hydroxyglutaric and 2-hydroxyglutaric acids facilitates diagnostic testing for glutaric aciduria type 1

提高3-羟基戊二酸和2-羟基戊二酸的鉴别能力有助于诊断1型戊二酸尿症。

Cyr, Denis; Boutin, Michel; Maranda, Bruno; Waters, Paula J

A case of hyperlysinemia identified by urine newborn screening

通过新生儿尿液筛查发现一例高赖氨酸血症病例

Yeganeh, Mehdi; Auray-Blais, Christiane; Maranda, Bruno; Sabovic, Amanda; DeVita, Robert J; Lazarus, Michael B; Houten, Sander M

Outcomes in pediatric studies of medium-chain acyl-coA dehydrogenase (MCAD) deficiency and phenylketonuria (PKU): a review

中链酰基辅酶A脱氢酶(MCAD)缺乏症和苯丙酮尿症(PKU)儿科研究结果:综述

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

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

Clinical characteristics of patients from Quebec, Canada, with Morquio A syndrome: a longitudinal observational study

加拿大魁北克省莫尔基奥A综合征患者的临床特征:一项纵向观察研究

Moisan, Lina; Iannuzzi, David; Maranda, Bruno; Campeau, Philippe M; Mitchell, John J