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

Phenotypic Divergence of JAG1- and NOTCH2-Associated Alagille Syndrome & Disease-Specific NOTCH2 Variant Classification Guidelines

JAG1 和 NOTCH2 相关阿拉吉尔综合征的表型差异及疾病特异性 NOTCH2 变异分类指南

Vandriel, Shannon M; Li, Li-Ting; She, Huiyu; Wang, Jian-She; Loomes, Kathleen M; Piccoli, David A; Jankowska, Irena; Czubkowski, Piotr; Gliwicz-Miedzińska, Dorota; D'Antiga, Lorenzo; Nicastro, Emanuele; Lacaille, Florence; Debray, Dominique; Sokal, Étienne M; Demaret, Tanguy; Fawaz, Rima L; Nastasio, Silvia; Kim, Kyung Mo; Oh, Seak Hee; Fischler, Björn; Arnell, Henrik; Larson-Nath, Catherine; Hardikar, Winita; Shankar, Sahana; Sundaram, Shikha S; Chaidez, Alexander; Bulut, Pinar; Calvo, Pier Luigi; Kasahara, Mureo; Blondet, Niviann; Lurz, Eberhard; Kavallar, Anna-Maria; Gonzales, Emmanuel M; Jacquemin, Emmanuel; Bouligand, Jérôme; Ebel, Noelle H; Feinstein, Jeffrey A; Siew, Susan M; Stormon, Michael O; Karpen, Saul J; Romero, Rene; Jensen, M Kyle; Jaramillo, Catalina; Squires, James E; Bedoyan, Sarah M; Kelly, Deirdre A; Hartley, Jane; Verkade, Henkjan J; Lee, Way Seah; Lertudomphonwanit, Chatmanee; Fischer, Ryan T; Lin, Henry C; Rock, Nathalie; Mozer-Glassberg, Yael; Roberts, Amin J; Evans, Helen M; Karnsakul, Wikrom; Nebbia, Gabriella; Wolters, Victorien M; Valentino, Pamela L; Bernabeu, Jesus Quintero; Aqul, Amal A; Arikan, Cigdem; Tamara, María Legarda; Busoms, Cristina Molera; Sandahl, Thomas Damgaard; Indolfi, Giuseppe; Zizzo, Andréanne N; Zellos, Aglaia; Quiros-Tejeira, Ruben E; Santos-Silva, Ermelinda; Schwarz, Kathleen B; Brecelj, Jernej; Sanchez, Maria Camila; Cavalieri, Maria Lorena; Tzivinikos, Christos; Wiecek, Sabina; Eshun, John; Kerkar, Nanda; Mujawar, Quais; Önal, Zerrin; Gonçalves, Cristina; Garcia, Jennifer; Alam, Seema; Jimenez-Rivera, Carolina; Bujanda, Luis; Thompson, Richard J; Hansen, Bettina E; Spinner, Nancy B; Gilbert, Melissa A; Kamath, Binita M

Hepatic Phenotype in NBAS-Associated Disease: Clinical Course, Prognostic Factors and Outcome in 230 Patients

NBAS相关疾病的肝脏表型:230例患者的临床病程、预后因素和结局

Peters, Bianca; Schlieben, Lea Dewi; Brennenstuhl, Heiko; Arikan, Cigdem; Bedoyan, Sarah M; Bulut, Fatma Derya; Crushell, Ellen; Dionisi-Vici, Carlo; Drab, Ada; Fichtner, Alexander; Garcia, Aixa Gonzalez; Fry, Deanna; Garbade, Sven F; Hammann, Nicole; Hadzic, Nedim; Hegarty, Robert; Jørgensen, Marianne Hørby; Laaß, Martin; Lainka, Elke; Leghlam, Lina; Lurz, Eberhard; Mungan, Halise Neslihan Önenli; Pietrobattista, Andrea; Polo, Begona; Socha, Piotr; Squires, James E; Sun, Tian; Vogel, Georg F; Prokisch, Holger; Kölker, Stefan; Hoffmann, Georg F; Staufner, Christian; Lenz, Dominic

Fluid Management Bundle in Critically Ill Children With Respiratory Failure Is Associated With a Reduced Prevalence of Excess Fluid Accumulation

针对呼吸衰竭危重儿童的液体管理方案与降低体液过多的发生率相关。

Foglia, Matthew J; Bedoyan, Sarah M; Horvat, Christopher M; Fabio, Anthony; Fuhrman, Dana Y

Kidney Replacement Therapy and Mortality in Children With Inborn Errors of Metabolism: A Meta-analysis

肾脏替代疗法与先天性代谢缺陷患儿死亡率:一项荟萃分析

Raina, Rupesh; Doshi, Kush; Sethi, Sidharth; Pember, Bryce; Kumar, Rohan; Alhasan, Khalid A; Boshkos, Mitchell C; Tibrewal, Abhishek; Bedoyan, Jirair K

A novel GK Ala469Val variant resulting in glycerol kinase deficiency with concurrent hepatoblastoma: A case report

一种新型GK Ala469Val变异导致甘油激酶缺乏并伴发肝母细胞瘤:病例报告

Filingeri, Domenic; Mackey, Sarah; Soller, Haley; Guarneri-Tragone, Alissa; Cooper, James; Escobar, Oscar; Bedoyan, Jirair K

Are asymptomatic carriers of OTC deficiency always asymptomatic? A multicentric retrospective study of risk using the UCDC longitudinal study database

无症状的鸟氨酸氨甲酰转移酶缺乏症携带者是否总是无症状?一项利用加州大学伯克利分校疾病控制中心纵向研究数据库的多中心回顾性风险研究

Sen, Kuntal; Izem, Rima; Long, Yuelin; Jiang, Jiji; Konczal, Laura L; McCarter, Robert J; Gropman, Andrea L; Bedoyan, Jirair K

CDH1 gene mutation, a challenging surgical topic: Case report and literature review

CDH1基因突变,一个具有挑战性的外科病例:病例报告及文献综述

Maalouf, Hani; Saber, Toufic; Ghattas, Souad; Meguerian-Bedoyan, Zarouhie; El Rassi, Ziad

Clinical, biochemical and molecular characterization of 12 patients with pyruvate carboxylase deficiency treated with triheptanoin

对12例接受三庚酸甘油酯治疗的丙酮酸羧化酶缺乏症患者进行临床、生化和分子特征分析

Lasio, M Laura Duque; Leshinski, Angela C; Ducich, Nicole H; Flore, Leigh Anne; Lehman, April; Shur, Natasha; Jayakar, Parul B; Hainline, Bryan E; Basinger, Alice A; Wilson, William G; Diaz, George A; Erbe, Richard W; Koeberl, Dwight D; Vockley, Jerry; Bedoyan, Jirair K

Solvent accessibility of E1α and E1β residues with known missense mutations causing pyruvate dehydrogenase complex (PDC) deficiency: Impact on PDC-E1 structure and function

已知错义突变导致丙酮酸脱氢酶复合物 (PDC) 缺乏症的 E1α 和 E1β 残基的溶剂可及性:对 PDC-E1 结构和功能的影响

Ducich, Nicole H; Mears, Jason A; Bedoyan, Jirair K

Odevixibat: a promising new treatment for progressive familial intrahepatic cholestasis

奥德维西巴:一种治疗进行性家族性肝内胆汁淤积症的有前景的新疗法

Bedoyan, Sarah M; Lovell, Olya T; Horslen, Simon P; Squires, James E