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

Impact of burosumab on lower limb alignment in children with X-linked hypophosphatemia

布罗索单抗对X连锁低磷血症患儿下肢力线的影响

Frumberg, David B; Merritt, J Lawrence 2nd; Chen, Angel; Carpenter, Thomas O

Advances in Virtual Cutting Guide and Stereotactic Navigation for Complex Tumor Resections of the Sacrum and Pelvis: Case Series with Short-Term Follow-Up

骶骨和盆腔复杂肿瘤切除术中虚拟切割导板和立体定向导航技术的进展:短期随访病例系列研究

Hirase, Takashi; McChesney, Grant R; Garvin, Lawrence 2nd; Tappa, Karthik; Satcher, Robert L; Mericli, Alexander F; Rhines, Laurence D; Bird, Justin E

Refractory Myoclonus as a Presentation of Metabolic Stroke in A Child With Cobalamin B Methylmalonic Acidemia After Liver and Kidney Transplant

肝肾移植后,一名患有钴胺素B甲基丙二酸血症的儿童出现难治性肌阵挛,提示代谢性卒中

Olson, Valerie; Chang, Irene J; Merritt, J Lawrence 2nd; Mingbunjerdsuk, Dararat

Biallelic variants in KARS1 are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish

KARS1基因的双等位基因变异与神经发育障碍和听力损失相关,这种现象在斑马鱼基因敲除模型中得到了重现。

Lin, Sheng-Jia; Vona, Barbara; Barbalho, Patricia G; Kaiyrzhanov, Rauan; Maroofian, Reza; Petree, Cassidy; Severino, Mariasavina; Stanley, Valentina; Varshney, Pratishtha; Bahena, Paulina; Alzahrani, Fatema; Alhashem, Amal; Pagnamenta, Alistair T; Aubertin, Gudrun; Estrada-Veras, Juvianee I; Hernández, Héctor Adrián Díaz; Mazaheri, Neda; Oza, Andrea; Thies, Jenny; Renaud, Deborah L; Dugad, Sanmati; McEvoy, Jennifer; Sultan, Tipu; Pais, Lynn S; Tabarki, Brahim; Villalobos-Ramirez, Daniel; Rad, Aboulfazl; Galehdari, Hamid; Ashrafzadeh, Farah; Sahebzamani, Afsaneh; Saeidi, Kolsoum; Torti, Erin; Elloumi, Houda Z; Mora, Sara; Palculict, Timothy B; Yang, Hui; Wren, Jonathan D; Ben Fowler; Joshi, Manali; Behra, Martine; Burgess, Shawn M; Nath, Swapan K; Hanna, Michael G; Kenna, Margaret; Merritt, J Lawrence 2nd; Houlden, Henry; Karimiani, Ehsan Ghayoor; Zaki, Maha S; Haaf, Thomas; Alkuraya, Fowzan S; Gleeson, Joseph G; Varshney, Gaurav K

Delineating the molecular and phenotypic spectrum of the SETD1B-related syndrome

阐明SETD1B相关综合征的分子和表型谱

Weerts, Marjolein J A; Lanko, Kristina; Guzmán-Vega, Francisco J; Jackson, Adam; Ramakrishnan, Reshmi; Cardona-Londoño, Kelly J; Peña-Guerra, Karla A; van Bever, Yolande; van Paassen, Barbara W; Kievit, Anneke; van Slegtenhorst, Marjon; Allen, Nicholas M; Kehoe, Caroline M; Robinson, Hannah K; Pang, Lewis; Banu, Selina H; Zaman, Mashaya; Efthymiou, Stephanie; Houlden, Henry; Järvelä, Irma; Lauronen, Leena; Määttä, Tuomo; Schrauwen, Isabelle; Leal, Suzanne M; Ruivenkamp, Claudia A L; Barge-Schaapveld, Daniela Q C M; Peeters-Scholte, Cacha M P C D; Galehdari, Hamid; Mazaheri, Neda; Sisodiya, Sanjay M; Harrison, Victoria; Sun, Angela; Thies, Jenny; Pedroza, Luis Alberto; Lara-Taranchenko, Yana; Chinn, Ivan K; Lupski, James R; Garza-Flores, Alexandra; McGlothlin, Jeffery; Yang, Lin; Huang, Shaoping; Wang, Xiaodong; Jewett, Tamison; Rosso, Gretchen; Lin, Xi; Mohammed, Shehla; Merritt, J Lawrence 2nd; Mirzaa, Ghayda M; Timms, Andrew E; Scheck, Joshua; Elting, Mariet W; Polstra, Abeltje M; Schenck, Lauren; Ruzhnikov, Maura R Z; Vetro, Annalisa; Montomoli, Martino; Guerrini, Renzo; Koboldt, Daniel C; Mosher, Theresa Mihalic; Pastore, Matthew T; McBride, Kim L; Peng, Jing; Pan, Zou; Willemsen, Marjolein; Koning, Susanne; Turnpenny, Peter D; de Vries, Bert B A; Gilissen, Christian; Pfundt, Rolph; Lees, Melissa; Braddock, Stephen R; Klemp, Kara C; Vansenne, Fleur; van Gijn, Marielle E; Quindipan, Catherine; Deardorff, Matthew A; Hamm, J Austin; Putnam, Abbey M; Baud, Rebecca; Walsh, Laurence; Lynch, Sally A; Baptista, Julia; Person, Richard E; Monaghan, Kristin G; Crunk, Amy; Keller-Ramey, Jennifer; Reich, Adi; Elloumi, Houda Zghal; Alders, Marielle; Kerkhof, Jennifer; McConkey, Haley; Haghshenas, Sadegheh; Maroofian, Reza; Sadikovic, Bekim; Banka, Siddharth; Arold, Stefan T; Barakat, Tahsin Stefan

Clinical effect and safety profile of pegzilarginase in patients with arginase 1 deficiency

培西拉根酶治疗精氨酸酶1缺乏症患者的临床疗效和安全性

Diaz, George A; Schulze, Andreas; McNutt, Markey C; Leão-Teles, Elisa; Merritt, J Lawrence 2nd; Enns, Gregory M; Batzios, Spyros; Bannick, Allison; Zori, Roberto T; Sloan, Leslie S; Potts, Susan L; Bubb, Gillian; Quinn, Anthony G

Clinical manifestations and management of fatty acid oxidation disorders

脂肪酸氧化障碍的临床表现和治疗

Merritt, J Lawrence 2nd; MacLeod, Erin; Jurecka, Agnieszka; Hainline, Bryan

Considering Proximal Urea Cycle Disorders in Expanded Newborn Screening

在扩大新生儿筛查范围时考虑近端尿素循环障碍

Vasquez-Loarte, Tania; Thompson, John D; Merritt, J Lawrence 2nd

Factor VIII and vWF deficiency in STT3A-CDG

STT3A-CDG 中的 VIII 因子和 vWF 缺乏

Chang, Irene J; Byers, Heather M; Ng, Bobby G; Merritt, John Lawrence 2nd; Gilmore, Reid; Shrimal, Shiteshu; Wei, Wei; Zhang, Yuan; Blair, Amanda B; Freeze, Hudson H; Zhang, Bin; Lam, Christina

Defining the phenotypic spectrum of SLC6A1 mutations

确定SLC6A1突变的表型谱

Johannesen, Katrine M; Gardella, Elena; Linnankivi, Tarja; Courage, Carolina; de Saint Martin, Anne; Lehesjoki, Anna-Elina; Mignot, Cyril; Afenjar, Alexandra; Lesca, Gaetan; Abi-Warde, Marie-Thérèse; Chelly, Jamel; Piton, Amélie; Merritt, J Lawrence 2nd; Rodan, Lance H; Tan, Wen-Hann; Bird, Lynne M; Nespeca, Mark; Gleeson, Joseph G; Yoo, Yongjin; Choi, Murim; Chae, Jong-Hee; Czapansky-Beilman, Desiree; Reichert, Sara Chadwick; Pendziwiat, Manuela; Verhoeven, Judith S; Schelhaas, Helenius J; Devinsky, Orrin; Christensen, Jakob; Specchio, Nicola; Trivisano, Marina; Weber, Yvonne G; Nava, Caroline; Keren, Boris; Doummar, Diane; Schaefer, Elise; Hopkins, Sarah; Dubbs, Holly; Shaw, Jessica E; Pisani, Laura; Myers, Candace T; Tang, Sha; Tang, Shan; Pal, Deb K; Millichap, John J; Carvill, Gemma L; Helbig, Kathrine L; Mecarelli, Oriano; Striano, Pasquale; Helbig, Ingo; Rubboli, Guido; Mefford, Heather C; Møller, Rikke S