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

Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing

及时干预HMG-CoA裂解酶缺乏症:新生儿筛查、代谢管理和基因组测序的作用

Menkovic, Iskren; Makhijani, Neelam; Francescatto, Ludmila; Pendyal, Surekha; Stanley, Christine; Young, Sarah P; Koeberl, Dwight D; Niyazov, Dmitriy; Stiles, Ashlee R

Persistent elevations of alkaline phosphatase as an early indicator of GM1 gangliosidosis

碱性磷酸酶持续升高是GM1神经节苷脂病的早期指标。

Menkovic, Iskren; Williams, Monika; Makhijani, Neelam; Wei, Ruhan; Young, Sarah P; El-Gharbawy, Areeg; Stiles, Ashlee R

Imaging in Infective Endocarditis-Current Opinions and Trends in Cardiac Computed Tomography

感染性心内膜炎的影像学诊断——心脏计算机断层扫描的最新观点和趋势

Petkovic, Ana; Menkovic, Nemanja; Petrovic, Olga; Bilbija, Ilija; Nisevic, Miodrag; Radovanovic, Nikola N; Stanisavljevic, Dejana; Putnik, Svetozar; Maksimovic, Ruzica; Ivanovic, Branislava

Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency

关键样本采集延误?尿有机酸分析仍可力挽狂澜!一例新的HMG-CoA合成酶缺乏症病例

Williams, Monika; Menkovic, Iskren; Reitnauer, Pamela; Gilbert, Eileen; Koeberl, Dwight; Young, Sarah P; Stiles, Ashlee R

Quantitation of a Urinary Profile of Biomarkers in Gaucher Disease Type 1 Patients Using Tandem Mass Spectrometry

利用串联质谱法定量分析戈谢病1型患者尿液中的生物标志物谱

Menkovic, Iskren; Boutin, Michel; Alayoubi, Abdulfatah; Curado, Filipa; Bauer, Peter; Mercier, François E; Auray-Blais, Christiane

Identification of a Reliable Biomarker Profile for the Diagnosis of Gaucher Disease Type 1 Patients Using a Mass Spectrometry-Based Metabolomic Approach

利用基于质谱的代谢组学方法鉴定戈谢病1型患者诊断的可靠生物标志物谱

Menkovic, Iskren; Boutin, Michel; Alayoubi, Abdulfatah; Mercier, François E; Rivard, Georges-Étienne; Auray-Blais, Christiane