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

TROCHANTERIC FRACTURES: ARE THE CLASSIFICATIONS RELIABLE?

股骨粗隆间骨折:分类可靠吗?

Win, Luis Henrique Zambra; Meyer, Oliver Damiani; Cruz, Eduardo Pedrini; Simionato, Ivan; Schwartsmann, Carlos Roberto; Kubaski, Fernanda Coutinho

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

Expression of HOTAIR and PTGS2 as potential biomarkers in chronic myeloid leukemia patients in Brazil

巴西慢性粒细胞白血病患者中HOTAIR和PTGS2表达作为潜在生物标志物的研究

Kubaski Benevides, Ana Paula; Marin, Anelis Maria; Wosniaki, Denise K; Oliveira, Rafaela Noga; Koerich, Gabriela Marino; Kusma, Bianca Nichele; Munhoz, Eduardo Cilião; Zanette, Dalila Luciola; Aoki, Mateus Nóbrega

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, non-reducing end glycosaminoglycan biomarkers are superior to internal disaccharide glycosaminoglycan biomarkers for newborn screening of mucopolysaccharidoses and GM1 gangliosidosis

内源性非还原末端糖胺聚糖生物标志物优于内部二糖糖胺聚糖生物标志物,可用于新生儿粘多糖贮积症和GM1神经节苷脂病的筛查。

Herbst, Zackary M; Hong, Xinying; Urdaneta, Leslie; Klein, Terri; Waggoner, Christine; Liao, Hsuan-Chieh; Kubaski, Francyne; Giugliani, Roberto; Fuller, Maria; Gelb, Michael H

Pilot study of newborn screening for six lysosomal diseases in Brazil

巴西新生儿六种溶酶体疾病筛查试点研究

Kubaski, Francyne; Sousa, Ines; Amorim, Tatiana; Pereira, Danilo; Silva, Camilo; Chaves, Vitor; Brusius-Facchin, Ana Carolina; Netto, Alice B O; Soares, Juliano; Vairo, Filippo; Poletto, Edina; Trometer, Joe; Souza, Alexandre; Ranieri, Enzo; Polo, Giulia; Hong, Xinying; Herbst, Zackary M; Burlina, Alberto; Gelb, Michael H; Giugliani, Roberto