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

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

Neonatal Screening for MPS Disorders in Latin America: A Survey of Pilot Initiatives

拉丁美洲新生儿 MPS 疾病筛查:试点计划调查

Francyne Kubaski, Inês Sousa, Tatiana Amorim, Danilo Pereira, Joe Trometer, Alexandre Souza, Enzo Ranieri, Giulia Polo, Alberto Burlina, Ana Carolina Brusius-Facchin, Alice Brinckmann Oliveira Netto, Shunji Tomatsu, Roberto Giugliani

Genetic diversity, admixture, and hatchery influence in Brook Trout (Salvelinus fontinalis) throughout western New York State.

纽约州西部溪鳟(Salvelinus fontinalis)的遗传多样性、混合和人工养殖的影响

Beer Stephanie Dowell, Cornett Scott, Austerman Peter, Trometer Betsy, Hoffman Thomas, Bartron Meredith L

Rapid and Modular Assembly of Click Substrates To Assay Enzyme Activity in the Newborn Screening of Lysosomal Storage Disorders

快速模块化组装点击底物用于新生儿溶酶体贮积症筛查中的酶活性检测

Skrinjar, Philipp; Schwarz, Markus; Lexmüller, Stefan; Mechtler, Thomas P; Zeyda, Maximilian; Greber-Platzer, Susanne; Trometer, Joe; Kasper, David C; Mikula, Hannes

Pilot study of newborn screening for six lysosomal storage diseases using Tandem Mass Spectrometry

利用串联质谱法对新生儿进行六种溶酶体贮积症筛查的初步研究

Elliott, Susan; Buroker, Norman; Cournoyer, Jason J; Potier, Anna M; Trometer, Joseph D; Elbin, Carole; Schermer, Mack J; Kantola, Jaana; Boyce, Aaron; Turecek, Frantisek; Gelb, Michael H; Scott, C Ronald

Dataset and standard operating procedure for newborn screening of six lysosomal storage diseases: By tandem mass spectrometry

新生儿六种溶酶体贮积症筛查数据集和标准操作程序:通过串联质谱法

Susan Elliott, Norman Buroker, Jason J Cournoyer, Anna M Potier, Joseph D Trometer, Carole Elbin, Mack J Schermer, Jaana Kantola, Aaron Boyce, Frantisek Turecek, Michael H Gelb, C Ronald Scott