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

De novo variants in ATP2B1 lead to neurodevelopmental delay

ATP2B1基因的新生突变会导致神经发育迟缓

Rahimi, Meer Jacob; Urban, Nicole; Wegler, Meret; Sticht, Heinrich; Schaefer, Michael; Popp, Bernt; Gaunitz, Frank; Morleo, Manuela; Nigro, Vincenzo; Maitz, Silvia; Mancini, Grazia M S; Ruivenkamp, Claudia; Suk, Eun-Kyung; Bartolomaeus, Tobias; Merkenschlager, Andreas; Koboldt, Daniel; Bartholomew, Dennis; Stegmann, Alexander P A; Sinnema, Margje; Duynisveld, Irma; Salvarinova, Ramona; Race, Simone; de Vries, Bert B A; Trimouille, Aurélien; Naudion, Sophie; Marom, Daphna; Hamiel, Uri; Henig, Noa; Demurger, Florence; Rahner, Nils; Bartels, Enrika; Hamm, J Austin; Putnam, Abbey M; Person, Richard; Jamra, Rami Abou; Oppermann, Henry

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

Genome-wide sequencing and the clinical diagnosis of genetic disease: The CAUSES study

全基因组测序与遗传疾病的临床诊断:CAUSES 研究

Elliott, Alison M; Adam, Shelin; du Souich, Christèle; Lehman, Anna; Nelson, Tanya N; van Karnebeek, Clara; Alderman, Emily; Armstrong, Linlea; Aubertin, Gudrun; Blood, Katherine; Boelman, Cyrus; Boerkoel, Cornelius; Bretherick, Karla; Brown, Lindsay; Chijiwa, Chieko; Clarke, Lorne; Couse, Madeline; Creighton, Susan; Watts-Dickens, Abby; Gibson, William T; Gill, Harinder; Tarailo-Graovac, Maja; Hamilton, Sara; Heran, Harindar; Horvath, Gabriella; Huang, Lijia; Hulait, Gurdip K; Koehn, David; Lee, Hyun Kyung; Lewis, Suzanne; Lopez, Elena; Louie, Kristal; Niederhoffer, Karen; Matthews, Allison; Meagher, Kirsten; Peng, Junran J; Patel, Millan S; Race, Simone; Richmond, Phillip; Rupps, Rosemarie; Salvarinova, Ramona; Seath, Kimberly; Selby, Kathryn; Steinraths, Michelle; Stockler, Sylvia; Tang, Kaoru; Tyson, Christine; van Allen, Margot; Wasserman, Wyeth; Mwenifumbo, Jill; Friedman, Jan M

Development of minimally invasive (13)C-glucose breath test to examine different exogenous carbohydrate sources in patients with glycogen storage disease type Ia

开发微创(13)C-葡萄糖呼气试验,用于检测Ia型糖原贮积症患者体内不同的外源性碳水化合物来源

Turki, Abrar; Stockler, Sylvia; Sirrs, Sandra; Salvarinova, Ramona; Ho, Gloria; Branov, Jennifer; Rosen-Heath, Annie; Bosdet, Taryn; Elango, Rajavel

C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation

C2orf69 突变会破坏线粒体功能,并导致人类多系统疾病和反复出现的自身炎症

Eva Lausberg, Sebastian Gießelmann, Joseph P Dewulf, Elsa Wiame, Anja Holz, Ramona Salvarinova, Clara D van Karnebeek, Patricia Klemm, Kim Ohl, Michael Mull, Till Braunschweig, Joachim Weis, Clemens J Sommer, Stephanie Demuth, Claudia Haase, Claudia Stollbrink-Peschgens, François-Guillaume Debray, C

NANS-CDG: Delineation of the Genetic, Biochemical, and Clinical Spectrum

NANS-CDG:遗传、生化和临床谱系的界定

den Hollander, Bibiche; Rasing, Anne; Post, Merel A; Klein, Willemijn M; Oud, Machteld M; Brands, Marion M; de Boer, Lonneke; Engelke, Udo F H; van Essen, Peter; Fuchs, Sabine A; Haaxma, Charlotte A; Jensson, Brynjar O; Kluijtmans, Leo A J; Lengyel, Anna; Lichtenbelt, Klaske D; Østergaard, Elsebet; Peters, Gera; Salvarinova, Ramona; Simon, Marleen E H; Stefansson, Kari; Thorarensen, Ólafur; Ulmen, Ulrike; Coene, Karlien L M; Willemsen, Michèl A; Lefeber, Dirk J; van Karnebeek, Clara D M

Long term follow-up of the dietary intake in propionic acidemia

丙酸血症患者饮食摄入量的长期随访

Mobarak, A; Stockler, S; Salvarinova, R; Van Karnebeek, C; Horvath, G

Hyperleucinosis during infections in maple syrup urine disease post liver transplantation

枫糖尿症肝移植后感染期间的高白细胞增多症

Guilder, Laura; Prada, Carlos E; Saenz, Sofia; Jain-Ghai, Shailly; Karp, Natalya; Mazariegos, George; Ratko, Suzanne; Salvarinova, Ramona; Mercimek-Andrews, Saadet

Clinical and biochemical improvement with galactose supplementation in SLC35A2-CDG

SLC35A2-CDG患者补充半乳糖后临床和生化指标均有所改善。

Witters, Peter; Tahata, Shawn; Barone, Rita; Õunap, Katrin; Salvarinova, Ramona; Grønborg, Sabine; Hoganson, George; Scaglia, Fernando; Lewis, Andrea Margaret; Mori, Mari; Sykut-Cegielska, Jolanta; Edmondson, Andrew; He, Miao; Morava, Eva