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

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

Use of dexamethasone in acute rhabdomyolysis in LPIN1 deficiency

地塞米松在LPIN1缺乏症引起的急性横纹肌溶解症中的应用

Yeganeh, Mehdi; March, Kaitlin; Jones, Catherine; Ho, Gloria; Selby, Kathryn A; Chanoine, Jean-Pierre; Stockler, Sylvia; Salvarinova, Ramona; Horvath, Gabriella; Brunel-Guitton, Catherine

Infantile onset carnitine palmitoyltransferase 2 deficiency: Cortical polymicrogyria, schizencephaly, and gray matter heterotopias in an adolescent with normal development

婴儿期发病的肉碱棕榈酰转移酶2缺乏症:一名发育正常的青少年出现皮质多小脑回畸形、裂脑畸形和灰质异位

Shelihan, Ivan; Rossignol, Elsa; Décarie, Jean-Claude; Bonnefont, Jean-Paul; Brivet, Michèle; Brunel-Guitton, Catherine; Mitchell, Grant 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

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex I deficiency

一名患有FOXRED1相关复合物I缺陷的婴儿出现先天性乳酸性酸中毒、脑囊肿和肺动脉高压。

Apatean, Delia; Rakic, Bojana; Brunel-Guitton, Catherine; Hendson, Glenda; Bai, Renkui; Sargent, Michael A; Lavoie, Pascal M; Patel, Millan; Stockler-Ipsiroglu, Sylvia

Congenital lactic acidosis, cerebral cysts and pulmonary hypertension in an infant with FOXRED1 related complex 1 deficiency

一名患有FOXRED1相关复合物1缺陷的婴儿出现先天性乳酸性酸中毒、脑囊肿和肺动脉高压。

Apatean, Delia; Rakic, Bojana; Brunel-Guitton, Catherine; Hendson, Glenda; Bai, Renkui; Sargent, Michael A; Lavoie, Pascal M; Patel, Millan; Stockler-Ipsiroglu, Sylvia

Glutaric Aciduria Type 3: Three Unrelated Canadian Cases, with Different Routes of Ascertainment

戊二酸尿症3型:三例互不相关的加拿大病例,确诊途径各不相同

Waters, Paula J; Kitzler, Thomas M; Feigenbaum, Annette; Geraghty, Michael T; Al-Dirbashi, Osama; Bherer, Patrick; Auray-Blais, Christiane; Gravel, Serge; McIntosh, Nathan; Siriwardena, Komudi; Trakadis, Yannis; Brunel-Guitton, Catherine; Al-Hertani, Walla

Acute pediatric hyperammonemia: current diagnosis and management strategies

儿童急性高氨血症:目前的诊断和治疗策略

Savy, Nadia; Brossier, David; Brunel-Guitton, Catherine; Ducharme-Crevier, Laurence; Du Pont-Thibodeau, Geneviève; Jouvet, Philippe

Response to Newman et al

对 Newman 等人的回应

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H; Dimmock, David; Enns, Gregory M; Falk, Marni J; Feigenbaum, Annette; Frye, Richard E; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C; Mancuso, Michelangelo; McCormack, Shana; Josee Raboisson, Marie; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W; Sue, Carolyn M; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A; Zolkipli Cunningham, Zarazuela; Rahman, Shamima; Chinnery, Patrick F

Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

原发性线粒体疾病患者护理标准:线粒体医学学会共识声明

Parikh, Sumit; Goldstein, Amy; Karaa, Amel; Koenig, Mary Kay; Anselm, Irina; Brunel-Guitton, Catherine; Christodoulou, John; Cohen, Bruce H; Dimmock, David; Enns, Gregory M; Falk, Marni J; Feigenbaum, Annette; Frye, Richard E; Ganesh, Jaya; Griesemer, David; Haas, Richard; Horvath, Rita; Korson, Mark; Kruer, Michael C; Mancuso, Michelangelo; McCormack, Shana; Raboisson, Marie Josee; Reimschisel, Tyler; Salvarinova, Ramona; Saneto, Russell P; Scaglia, Fernando; Shoffner, John; Stacpoole, Peter W; Sue, Carolyn M; Tarnopolsky, Mark; Van Karnebeek, Clara; Wolfe, Lynne A; Cunningham, Zarazuela Zolkipli; Rahman, Shamima; Chinnery, Patrick F