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

Liposomal CRISPR/Cas9-Mediated Local Genome Editing for Joint Disease in Mucopolysaccharidosis Type I

利用脂质体 CRISPR/Cas9 介导的局部基因组编辑治疗 I 型粘多糖贮积症的关节疾病

Santos, Hallana Souza; Poletto, Edina; Vera, Luisa Natalia Pimentel; Farinon, Mirian; Kubaski, Francyne; Carneiro, Paola Barcelos; Carniel, Willian da Silva; Giugliani, Roberto; Matte, Ursula; Teixeira, Helder Ferreira; Schuh, Roselena Silvestri; Baldo, Guilherme

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

Comprehensive Characterization of a Cluster of Mucopolysaccharidosis IIIB in Ecuador

厄瓜多尔粘多糖贮积症 IIIB 型聚集性病例的全面特征分析

Castro Moreira, María Lucía; Montenegro, Yorran Hardman Araújo; Salatino-Oliveira, Angélica; Montano, Héctor Quintero; Bareiro, Rodolfo F Niz; Santos-Lopes, Simone Silva Dos; Silva, Thiago Ramos da; Azevedo, Lucas Kelvy Sales; Silva, Karyme Beatrice Lourenço da; Moreira, Affonso Weslley de Almeida; Araujo, Suzany Silva; Kubaski, Francyne; Trapp, Franciele Barbosa; Brusius-Facchin, Ana Carolina; Sebastião, Fernanda Medeiros; Michelin-Tirelli, Kristiane; Baldo, Guilherme; Giugliani, Roberto; Palhares, Durval

Functional assessment of IDUA variants of uncertain significance identified by newborn screening

对新生儿筛查中发现的意义未明的IDUA变异进行功能评估

Yu, Seok-Ho; Kubaski, Francyne; Arno, Gavin; Phinney, Whitney; Wood, Tim C; Flanagan-Steet, Heather; Pollard, Laura M; Steet, Richard

Family model diabetes self-management education and support in faith-based organizations in the Republic of the Marshall Islands: A study protocol

在马绍尔群岛共和国的信仰组织中开展家庭模式糖尿病自我管理教育和支持:一项研究方案

McElfish, Pearl A; Riklon, Sheldon; Andersen, Jennifer A; Selig, James P; Hudson, Jonell; Bing, Williamina Ioanna; Wase-Jacklick, Francyne; Niedenthal, Jack; Lemari, Kyle; Otuafi, Henry; Mendoza-Kabua, Philmar; Henske, Joseph A; Edem, Dinesh; Rowland, Brett; Schuh, Janine Boyers; O'Connor, Gail; Ason, Mohammed; Bauleni, Andy; Ayers, Britni L

The importance of geographic and sociodemographic aspects in the characterization of mucopolysaccharidoses: a case series from Ceará state (Northeast Brazil)

地理和社会人口因素在粘多糖贮积症特征描述中的重要性:来自巴西东北部塞阿拉州的一系列病例

Cardoso-Dos-Santos, Augusto César; Mariath, Luiza Monteavaro; Trapp, Franciele; Facchin, Ana Carolina Brusius; Leistner, Sandra; Kubaski, Francyne; Giugliani, Roberto; Schuler-Faccini, Lavinia; Ribeiro, Erlane Marques

Disease progression in Sanfilippo type B: Case series of Brazilian patients

Sanfilippo B 型疾病进展:巴西患者病例系列

Montenegro, Yorran Hardman Araújo; Kubaski, Francyne; Trapp, Franciele Barbosa; Riegel-Giugliani, Mariluce; Souza, Carolina Fischinger Moura de; Ribeiro, Erlane Marques; Lourenço, Charles Marques; Cardoso-Dos-Santos, Augusto César; Ribeiro, Márcia Gonçalves; Kim, Chong Ae; Castro, Matheus Augusto Araújo; Embiruçu, Emília Katiane; Steiner, Carlos Eduardo; Vairo, Filippo Pinto E; Baldo, Guilherme; Giugliani, Roberto; Poswar, Fabiano de Oliveira

Endogenous endophthalmitis due to Escherichia coli: a case report

大肠杆菌引起的内源性眼内炎:病例报告

Braga, João Pedro Romero; Bellanda, Victor C F; Lucena, Moises Moura de; Reis, Francyne Veiga; Jorge, Rodrigo

Agreement and internal quality assurance of the Neubauer hemocytometer and Makler chamber for human sperm concentration determination

Neubauer 血细胞计数器和 Makler 室用于测定人类精子浓度的一致性和内部质量保证

Ane Francyne Costa, Fabiana Botelho de Miranda Onofre, Alexandre Sherlley Casimiro Onofre

RECURRENT OPTIC DISC PIT MACULOPATHY DUE TO VALSALVA'S MANEUVER

瓦尔萨尔瓦动作引起的复发性视盘凹陷性黄斑病变

Cyrino, Francyne Veiga Reis; Marques, Joao Pedro Guzzi; Jorge, Rodrigo