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

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

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

Evidence-based consensus guidelines for the diagnosis and management of protoporphyria-related liver dysfunction in erythropoietic protoporphyria and X-linked protoporphyria

基于循证医学的红细胞生成性原卟啉病和X连锁原卟啉病相关肝功能障碍的诊断和治疗共识指南

Levy, Cynthia; Dickey, Amy K; Wang, Bruce; Thapar, Manish; Naik, Hetanshi; Keel, Siobán B; Saberi, Behnam; Beaven, Simon W; Rudnick, Sean R; Elmariah, Sarina B; Erwin, Angelika L; Goddu, Robert J; Hedstrom, Karli; Leaf, Rebecca Karp; Kazamel, Mohamed; Mazepa, Marshall; Philpotts, Lisa Liang; Quigley, John; Raef, Haya; Ungar, Jonathan; Anderson, Karl E; Balwani, Manisha

Evidence-based consensus guidelines for the diagnosis and management of erythropoietic protoporphyria and X-linked protoporphyria

红细胞生成性原卟啉病和X连锁原卟啉病的诊断和治疗的循证共识指南

Dickey, Amy K; Naik, Hetanshi; Keel, Siobán B; Levy, Cynthia; Beaven, Simon W; Elmariah, Sarina B; Erwin, Angelika L; Goddu, Robert J; Hedstrom, Karli; Leaf, Rebecca K; Kazamel, Mohamed; Mazepa, Marshall; Philpotts, Lisa Liang; Quigley, John; Raef, Haya; Rudnick, Sean R; Saberi, Behnam; Thapar, Manish; Ungar, Jonathan; Wang, Bruce; Balwani, Manisha

Editorial: Diagnosis of neuromuscular disorders in the era of personalized genomic medicine

社论:个性化基因组医学时代神经肌肉疾病的诊断

Kazamel, Mohamed; Ho, Cheng-Ying

Case report: A novel homozygous histidine triad nucleotide-binding protein 1 mutation featuring distal hereditary motor-predominant neuropathy with rimmed vacuoles.

病例报告:一种新型纯合组氨酸三联体核苷酸结合蛋白 1 突变,表现为远端遗传性运动为主的神经病伴边缘空泡

Jiang Nan, Vazquez Do Campo Rocio, Kazamel Mohamed

Pain in acute hepatic porphyrias: Updates on pathophysiology and management

急性肝卟啉症疼痛:病理生理学和治疗进展

Kazamel, Mohamed; Pischik, Elena; Desnick, Robert J

Autonomic neuropathy as post-acute sequela of SARS-CoV-2 infection: a case report

SARS-CoV-2感染后急性期后遗症——自主神经病变:病例报告

Agnihotri, Shruti P; Luis, Carmela V San; Kazamel, Mohamed

International Prospective Registry of Acute Coronary Syndromes in Patients With COVID-19

新冠肺炎患者急性冠脉综合征国际前瞻性登记研究

Kite, Thomas A; Ludman, Peter F; Gale, Chris P; Wu, Jianhua; Caixeta, Adriano; Mansourati, Jacques; Sabate, Manel; Jimenez-Quevedo, Pilar; Candilio, Luciano; Sadeghipour, Parham; Iniesta, Angel M; Hoole, Stephen P; Palmer, Nick; Ariza-Solé, Albert; Namitokov, Alim; Escutia-Cuevas, Hector H; Vincent, Flavien; Tica, Otilia; Ngunga, Mzee; Meray, Imad; Morrow, Andrew; Arefin, Md Minhaj; Lindsay, Steven; Kazamel, Ghada; Sharma, Vinoda; Saad, Aly; Sinagra, Gianfranco; Sanchez, Federico Ariel; Roik, Marek; Savonitto, Stefano; Vavlukis, Marija; Sangaraju, Shankar; Malik, Iqbal S; Kean, Sharon; Curzen, Nick; Berry, Colin; Stone, Gregg W; Gersh, Bernard J; Gershlick, Anthony H

Wnt antagonist FRZB is a muscle biomarker of denervation atrophy in amyotrophic lateral sclerosis

Wnt 拮抗剂 FRZB 是肌萎缩侧索硬化症失神经支配萎缩的肌肉生物标志物

Thaddaeus Kwan, Mohamed Kazamel, Kristina Thoenes, Ying Si, Nan Jiang, Peter H King

Fibulin-5 mutation featuring Charcot-Marie-Tooth disease, joint hyperlaxity, and scoliosis

纤连蛋白-5基因突变可导致夏科-马里-图斯病、关节过度松弛和脊柱侧弯

Kazamel, Mohamed; Lopez, Michael A; Bebin, Martina; Bowling, Kevin; Korf, Bruce R; Barsh, Gregory S; Cooper, Gregory M; Hurst, Anna C E; Ubogu, Eroboghene E