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

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease

鞘脂中和分子疗法可降低克拉伯病中精神苷脂的细胞毒性

Begum, Salma; Hsueh, Shin-Chang; Cheria, Ezra M Y; Espejo, Jayar; Zhang, Ping; Collin, Armand; Kappauf, Edgar; Mardenli, Murielle; Gelb, Michael H; Ling, Chang-Chun; Maegawa, Gustavo H B

Design of intrinsically disordered region binding proteins

固有无序区结合蛋白的设计

Wu, Kejia; Jiang, Hanlun; Hicks, Derrick R; Liu, Caixuan; Muratspahić, Edin; Ramelot, Theresa A; Liu, Yuexuan; McNally, Kerrie; Kenny, Sebastian; Mihut, Andrei; Gaur, Amit; Coventry, Brian; Chen, Wei; Bera, Asim K; Kang, Alex; Gerben, Stacey; Lamb, Mila Ya-Lan; Murray, Analisa; Li, Xinting; Kennedy, Madison A; Yang, Wei; Song, Zihao; Schober, Gudrun; Brierley, Stuart M; O'Neill, John; Gelb, Michael H; Montelione, Gaetano T; Derivery, Emmanuel; Baker, David

Technical recommendations for analyzing oxylipins by liquid chromatography-mass spectrometry

利用液相色谱-质谱法分析氧化脂质的技术建议

Schebb, Nils Helge; Kampschulte, Nadja; Hagn, Gerhard; Plitzko, Kathrin; Meckelmann, Sven W; Ghosh, Soumita; Joshi, Robin; Kuligowski, Julia; Vuckovic, Dajana; Botana, Marina T; Sánchez-Illana, Ángel; Zandkarimi, Fereshteh; Das, Aditi; Yang, Jun; Schmidt, Louis; Checa, Antonio; Roche, Helen M; Armando, Aaron M; Edin, Matthew L; Lih, Fred B; Aristizabal-Henao, Juan J; Miyamoto, Sayuri; Giuffrida, Francesca; Moussaieff, Arieh; Domingues, Rosário; Rothe, Michael; Hinz, Christine; Das, Ujjalkumar Subhash; Rund, Katharina M; Taha, Ameer Y; Hofstetter, Robert K; Werner, Markus; Werz, Oliver; Kahnt, Astrid S; Bertrand-Michel, Justine; Le Faouder, Pauline; Gurke, Robert; Thomas, Dominique; Torta, Federico; Milic, Ivana; Dias, Irundika H K; Spickett, Corinne M; Biagini, Denise; Lomonaco, Tommaso; Idborg, Helena; Liu, Jun-Yan; Fedorova, Maria; Ford, David A; Barden, Anne; Mori, Trevor A; Kennedy, Paul D; Maxey, Kirk; Ivanisevic, Julijana; Gallart-Ayala, Hector; Gladine, Cécile; Wenk, Markus; Galano, Jean-Marie; Durand, Thierry; Stark, Ken D; Barbas, Coral; Garscha, Ulrike; Gelhaus, Stacy L; Ceglarek, Uta; Flamand, Nicolas; Griffin, Julian L; Ahrends, Robert; Arita, Makoto; Zeldin, Darryl C; Schopfer, Francisco J; Quehenberger, Oswald; Julian, Randall; Nicolaou, Anna; Blair, Ian A; Murphy, Michael P; Hammock, Bruce D; Freeman, Bruce; Liebisch, Gerhard; Serhan, Charles N; Köfeler, Harald C; Jakobsson, Per-Johan; Steinhilber, Dieter; Gelb, Michael H; Holčapek, Michal; Andrew, Ruth; Giera, Martin; FitzGerald, Garret A; Murphy, Robert C; Newman, John W; Dennis, Edward A; Ekroos, Kim; Milne, Ginger L; Gijón, Miguel A; Vesper, Hubert W; Wheelock, Craig E; O'Donnell, Valerie B

Quantification profiles of enzyme activity, secretion, and psychosine levels of Krabbe disease galactosylceramidase missense variants.

Krabbe 病半乳糖神经酰胺酶错义变异体的酶活性、分泌和精神苷脂水平的定量分析

Peng Hui, Lam Ying-Wai, Lau Kwok-Fai, Zhou Zitao, Herdt Aimee R, Gelb Michael H, Lee Chris W

High precision newborn screening for mucopolysaccharidosis type I by enzymatic activity followed by endogenous, non-reducing end glycosaminoglycan analysis

通过酶活性检测和内源性非还原末端糖胺聚糖分析,对新生儿粘多糖贮积症 I 型进行高精度筛查

Herbst, Zackary M; Kubaski, Francyne; Pollard, Laura; Basheeruddin, Khaja; Burton, Barbara; Orsini, Joseph; Henderson, Matthew; Chakraborty, Pranesh; Gelb, Michael H

Synthesis of the endogenous non-reducing end heparan sulfate disaccharide for newborn screening and diagnosis of Mucopolysaccharidosis type IIIA

合成内源性非还原末端硫酸乙酰肝素二糖用于新生儿筛查和诊断IIIA型粘多糖贮积症

Gholap, Sachin Popat; Herbst, Zackary; Paranji, Rajan K; Gelb, Michael H

Perinatal loss of galactosylceramidase in both oligodendrocytes and microglia is crucial for the pathogenesis of Krabbe disease in mice.

围产期少突胶质细胞和小胶质细胞中半乳糖脑苷脂酶的缺失是小鼠克拉伯病发病机制的关键因素

Favret Jacob, Nawaz Mohammed Haseeb, Patel Mayuri, Khaledi Hamid, Gelb Michael, Shin Daesung

Ultra-Performance Liquid Chromatography-Tandem Mass Spectrometry Analysis of Urinary Oligosaccharides and Glycoamino Acids for the Diagnosis of Mucopolysaccharidosis and Glycoproteinosis

超高效液相色谱-串联质谱法分析尿寡糖和糖氨基酸在粘多糖贮积症和糖蛋白贮积症诊断中的应用

Wongkittichote, Parith; Cho, Se Hyun; Miller, Artis; King, Kaitlyn; Herbst, Zackary M; Ren, Zhimei; Gelb, Michael H; Hong, Xinying

Higher precision, first tier newborn screening for metachromatic leukodystrophy using 16:1-OH-sulfatide

利用 16:1-OH-硫脂进行更高精度的新生儿异染性脑白质营养不良一级筛查

Bekri, Soumeya; Bley, Annette; Brown, Heather A; Chanson, Charlotte; Church, Heather J; Gelb, Michael H; Hong, Xinying; Janzen, Nils; Kasper, David C; Mechtler, Thomas; Morton, Georgina; Murko, Simona; Oliva, Petra; Tebani, Abdellah; Wu, Teresa H Y