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

A rapid and non-invasive proteomic analysis using DBS and buccal swab for multiplexed second-tier screening of Pompe disease and Mucopolysaccharidosis type I

利用干血斑和口腔拭子进行快速、无创的蛋白质组学分析,用于庞贝病和I型粘多糖贮积症的多重二级筛查。

Zhang, Tong; Duong, Phi; Dayuha, Remwilyn; Collins, Christopher J; Beckman, Erika; Thies, Jenny; Chang, Irene; Lam, Christina; Sun, Angela; Scott, Anna I; Thompson, John; Singh, Aranjeet; Khaledi, Hamid; Gelb, Michael H; Hahn, Si Houn

Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease

直接测量 ATP7B 肽对威尔逊病的诊断非常有效

Christopher J Collins, Fan Yi, Remwilyn Dayuha, Phi Duong, Simon Horslen, Michelle Camarata, Ayse K Coskun, Roderick H J Houwen, Tudor L Pop, Heinz Zoller, Han-Wook Yoo, Sung Won Jung, Karl H Weiss, Michael L Schilsky, Peter Ferenci, Si Houn Hahn

Multiplexed Proteomic Analysis for Diagnosis and Screening of Five Primary Immunodeficiency Disorders From Dried Blood Spots

通过干血斑多重蛋白质组学分析诊断和筛查五种原发性免疫缺陷病

Christopher J Collins, Fan Yi, Remwilyn Dayuha, Jeffrey R Whiteaker, Hans D Ochs, Alexandra Freeman, Helen C Su, Amanda G Paulovich, Gesmar R S Segundo, Troy Torgerson, Si Houn Hahn

p.P1379S, a benign variant with reduced ATP7B protein level in Wilson Disease

p.P1379S 是一种良性变异,会导致威尔逊病中 ATP7B 蛋白水平降低。

Yi, Fan; Poskanzer, Sheri A; Myers, Candace T; Thies, Jenny; Collins, Christopher J; Dayuha, Remwilyn; Duong, Phi; Houwen, Roderick; Hahn, Si Houn

The co-occurrence of Wilson disease and X-linked agammaglobulinemia in one family highlights the promising diagnostic potential of proteolytic analysis

一个家族中同时出现威尔逊病和X连锁无丙种球蛋白血症,凸显了蛋白水解分析在诊断方面的巨大潜力。

Poskanzer, Sheri A; Thies, Jenny; Collins, Christopher J; Myers, Candace T; Dayuha, Remwilyn; Duong, Phi; Yi, Fan; Chang, Irene J; Ochs, Hans D; Torgerson, Troy R; Hahn, Si Houn

An Infrared Spectroscopic Study Toward the Formation of Alkylphosphonic Acids and Their Precursors in Extraterrestrial Environments

利用红外光谱法研究地外环境中烷基膦酸及其前体的形成

Turner, Andrew M; Abplanalp, Matthew J; Blair, Tyler J; Dayuha, Remwilyn; Kaiser, Ralf I

Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots

利用干血斑快速多重蛋白质组学筛查原发性免疫缺陷病

Christopher J Collins, Irene J Chang, Sunhee Jung, Remwilyn Dayuha, Jeffrey R Whiteaker, Gesmar R S Segundo, Troy R Torgerson, Hans D Ochs, Amanda G Paulovich, Si Houn Hahn