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

Biallelic variants in BBOX1 cause L-Carnitine deficiency and elevated γ-butyrobetaine

BBOX1基因的双等位基因变异会导致左旋肉碱缺乏和γ-丁基甜菜碱水平升高。

Li, Xiao; Yeganeh, Mehdi; Sinclair, Graham; Mwenifumbo, Jill; Jacob, Karen J; Arbour, Laura; Lehman, Anna; Rakic, Bojana; Vaz, Frédéric M; Horvath, Gabriella; Tarailo-Graovac, Maja; Stockler-Ipsiroglu, Sylvia

The future of paediatric sleep medicine: a blueprint for advancing the field

儿科睡眠医学的未来:推进该领域的蓝图

Schlarb, Angelika A; Blunden, Sarah; Brand, Serge; Bruni, Olivero; Corkum, Penny; Horne, Rosemary S C; Ipsiroglu, Osman S; Quante, Mirja; Spruyt, Karen; Owens, Judith

Protein requirements in adults with phenylketonuria and bioavailability of glycomacropeptide compared to an l-amino acid-based product

苯丙酮尿症成人患者的蛋白质需求以及糖巨肽与基于L-氨基酸的产品的生物利用度比较

Turki, Abrar; Stockler-Ipsiroglu, Sylvia; Sirrs, Sandra; Branov, Jennifer; Bosdet, Taryn; Elango, Rajavel

Establishing a core outcome set for creatine transporter deficiency and guanidinoacetate methyltransferase deficiency

建立肌酸转运蛋白缺乏症和胍基乙酸甲基转移酶缺乏症的核心结局指标集

Nasseri Moghaddam, Zahra; Reinhardt, Emily K; Thurm, Audrey; Potter, Beth K; Smith, Maureen; Graham, Celeste; Tiller, Beth H; Baker, Steven A; Bilder, Deborah A; Bogar, Regina; Britz, Jacobus; Cafferty, Rachel; Coller, Daniel P; DeGrauw, Ton J; Hall, Vicky; Lipshutz, Gerald S; Longo, Nicola; Mercimek-Andrews, Saadet; Miller, Judith S; Pasquali, Marzia; Salomons, Gajja S; Schulze, Andreas; Wheaton, Celine P; Williams, Kayla F; Young, Sarah P; Li, Jasmine; Balog, Sofia; Selucky, Theresa; Stöckler-Ipsiroglu, Sylvia; Wallis, Heidi

The Pharmacokinetics, Dosage, Preparation Forms, and Efficacy of Orally Administered Melatonin for Non-Organic Sleep Disorders in Autism Spectrum Disorder During Childhood and Adolescence: A Systematic Review

儿童和青少年自闭症谱系障碍非器质性睡眠障碍口服褪黑素的药代动力学、剂量、制剂形式和疗效:系统评价

Paditz, Ekkehart; Renner, Bertold; Koch, Rainer; Schneider, Barbara M; Schlarb, Angelika A; Ipsiroglu, Osman S

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

Health Care Costs After Genome-Wide Sequencing for Children With Rare Diseases in England and Canada

英格兰和加拿大罕见病儿童全基因组测序后的医疗保健费用

Weymann, Deirdre; Buckell, John; Fahr, Patrick; Loewen, Rosalie; Ehman, Morgan; Pollard, Samantha; Friedman, Jan M; Stockler-Ipsiroglu, Sylvia; Elliott, Alison M; Wordsworth, Sarah; Buchanan, James; Regier, Dean A

Iron Deficiency and Sleep/Wake Behaviors: A Scoping Review of Clinical Practice Guidelines-How to Overcome the Current Conundrum?

缺铁与睡眠/觉醒行为:临床实践指南范围综述——如何克服当前的难题?

McWilliams, Scout; Hill, Olivia; Ipsiroglu, Osman S; Clemens, Stefan; Weber, Alexander Mark; Chen, Michael; Connor, James; Felt, Barbara T; Manconi, Mauro; Mattman, Andre; Silvestri, Rosalia; Simakajornboon, Narong; Smith, Susan M; Stockler, Sylvia

Iron Deficiency and Restless Sleep/Wake Behaviors in Neurodevelopmental Disorders and Mental Health Conditions

神经发育障碍和精神健康问题中的缺铁和睡眠/觉醒不安行为

Ipsiroglu, Osman S; Pandher, Parveer K; Hill, Olivia; McWilliams, Scout; Braschel, Melissa; Edwards, Katherine; Friedlander, Robin; Keys, Elizabeth; Kuo, Calvin; Lewis, Marion Suzanne; Richardson, Anamaria; Wagner, Alexandra L; Wensley, David

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