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

A Prospective, Blinded Study of Symptom Prevalence and Specificity of Porphyrin Precursors in Carriers of Acute Hepatic Porphyria

一项关于急性肝卟啉症携带者中卟啉前体症状患病率和特异性的前瞻性、盲法研究

期刊:Liver International
影响因子:5.2
doi:10.1111/liv.70156
Merati, Mohsen; Jayakumar, Nanditha; Kapoor, Yuvraaj; Naik, Hetanshi; Balwani, Manisha; Anderson, Karl E; Bonkovsky, Herbert L; Desnick, Robert J; McGuire, Brendan; Phillips, John; Bissell, D Montgomery; Wang, Bruce
发表日期：2025
文献求助 收藏

Liver involvement in a large cohort of patients with erythropoietic protoporphyria or X-linked protoporphyria

在大组红细胞生成性原卟啉病或X连锁原卟啉病患者中发现肝脏受累

期刊:Hepatology Communications
影响因子:4.6
doi:10.1097/HC9.0000000000000657
Levy, Cynthia; Naik, Hetanshi; Overbey, Jessica; Hedstrom, Karli; Wang, Kelly; McDonough, Catherine; Freeman, Mary; Keel, Siobán B; Erwin, Angelika L; Dickey, Amy K; Leaf, Rebecca K; Quigley, John; Mazepa, Marshall; Wang, Bruce; Phillips, John; Parker, Charles; McGuire, Brendan; Kazamel, Mohamed; Bonkovsky, Herbert; Rudnick, Sean; Anderson, Karl E; Moghe, Akshata; Thapar, Manish; Saberi, Behnam; Wheeden, Kristen; Desnick, Robert; Balwani, Manisha
卟啉病
细胞生物学
红细胞
代谢
发表日期：2025
文献求助 收藏

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype

由双等位基因TIMM29变异和果蝇同源基因RNAi沉默引起的Sengers综合征重现了人类的表型

期刊:Human Genomics
影响因子:4.3
doi:10.1186/s40246-025-00723-y
Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna
Drosophila
TIM
多发性骨髓瘤
发表日期：2025
文献求助 收藏

Noncanonical role of ALAS1 as a heme-independent inhibitor of small RNA-mediated silencing

ALAS1作为一种不依赖血红素的小RNA介导沉默抑制剂的非经典作用

期刊:Science
影响因子:45.8
doi:10.1126/science.adp9388
Lee, Seungjae; Lee, Sangmi; Desnick, Robert; Yasuda, Makiko; Lai, Eric C
发表日期：2024
文献求助 收藏

Reduction in kidney function decline and risk of severe clinical events in agalsidase beta-treated Fabry disease patients: a matched analysis from the Fabry Registry

阿加糖酶β治疗可降低法布里病患者肾功能下降和严重临床事件风险：来自法布里病登记处的匹配分析

期刊:Clinical Kidney Journal
影响因子:4.6
doi:10.1093/ckj/sfae194
Batista, Julie L; Hariri, Ali; Maski, Manish; Richards, Susan; Gudivada, Badari; Raynor, Lewis A; Ponce, Elvira; Wanner, Christoph; Desnick, Robert J
发表日期：2024
文献求助 收藏

Systematically testing human HMBS missense variants to reveal mechanism and pathogenic variation

系统性地检测人类HMBS错义变异，以揭示其机制和致病变异

期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2023.08.012
van Loggerenberg, Warren; Sowlati-Hashjin, Shahin; Weile, Jochen; Hamilton, Rayna; Chawla, Aditya; Sheykhkarimli, Dayag; Gebbia, Marinella; Kishore, Nishka; Frésard, Laure; Mustajoki, Sami; Pischik, Elena; Di Pierro, Elena; Barbaro, Michela; Floderus, Ylva; Schmitt, Caroline; Gouya, Laurent; Colavin, Alexandre; Nussbaum, Robert; Friesema, Edith C H; Kauppinen, Raili; To-Figueras, Jordi; Aarsand, Aasne K; Desnick, Robert J; Garton, Michael; Roth, Frederick P
发表日期：2023
文献求助 收藏

Direct-to-Consumer Recruitment Methods via Traditional and Social Media to Aid in Research Accrual for Clinical Trials for Rare Diseases: Comparative Analysis Study

通过传统媒体和社交媒体直接面向消费者的招募方法辅助罕见病临床试验的研究招募：比较分析研究

期刊:Journal of Medical Internet Research
影响因子:6
doi:10.2196/39262
Applequist, Janelle; Burroughs, Cristina; Merkel, Peter A; Rothenberg, Marc; Trapnell, Bruce; Desnick, Robert; Sahin, Mustafa; Krischer, Jeffrey
发表日期：2023
文献求助 收藏

Cimetidine Does Not Inhibit 5-Aminolevulinic Acid Synthase or Heme Oxygenase Activity: Implications for Treatment of Acute Intermittent Porphyria and Erythropoietic Protoporphyria

西咪替丁不抑制5-氨基乙酰丙酸合成酶或血红素加氧酶活性：对急性间歇性卟啉病和红细胞生成性原卟啉病治疗的意义

期刊:Biomolecules
影响因子:4.8
doi:10.3390/biom14010027
Yasuda, Makiko; Lee, Sangmi; Gan, Lin; Bergonia, Hector A; Desnick, Robert J; Phillips, John D
卟啉病
细胞生物学
红细胞
代谢
发表日期：2023
文献求助 收藏

A universal GlycoDesign for lysosomal replacement enzymes to improve circulation time and biodistribution

一种用于溶酶体替代酶的通用糖基化设计，旨在改善循环时间和生物分布。

期刊:Frontiers in Bioengineering and Biotechnology
影响因子:4.8
doi:10.3389/fbioe.2023.1128371
Chen, Yen-Hsi; Tian, Weihua; Yasuda, Makiko; Ye, Zilu; Song, Ming; Mandel, Ulla; Kristensen, Claus; Povolo, Lorenzo; Marques, André R A; Čaval, Tomislav; Heck, Albert J R; Sampaio, Julio Lopes; Johannes, Ludger; Tsukimura, Takahiro; Desnick, Robert; Vakhrushev, Sergey Y; Yang, Zhang; Clausen, Henrik
发表日期：2023
文献求助 收藏

Nemaline myopathy: reclassification of previously reported variants according to ACMG guidelines, and report of novel genetic variants

线状肌病：根据ACMG指南对先前报道的变异进行重新分类，并报告新的遗传变异

期刊:European Journal of Human Genetics
影响因子:4.6
doi:10.1038/s41431-023-01378-w
Haghighi, Alireza; Alvandi, Zahra; Nilipour, Yalda; Haghighi, Amirreza; Kornreich, Ruth; Nafissi, Shahriar; Desnick, Robert J
发表日期：2023
文献求助 收藏