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

A Roadmap for Potential Improvement of Newborn Screening for Inherited Metabolic Diseases Following Recent Developments and Successful Applications of Bivariate Normal Limits for Pre-Symptomatic Detection of MPS I, Pompe Disease, and Krabbe Disease

基于近期进展和双变量正常值限值在MPS I、庞贝病和克拉伯病症状前检测中的成功应用,制定新生儿遗传代谢病筛查潜在改进路线图

Jalal, Kabir; Carter, Randy L; Barczykowski, Amy; Tomatsu, Shunji; Langan, Thomas J

Death rates in the U.S. due to Leukodystrophies with pediatric forms

美国儿童型脑白质营养不良症的死亡率

Barczykowski, Amy L; Langan, Thomas J; Vanderver, Adeline; Jalal, Kabir; Carter, Randy L

Development of a newborn screening tool for mucopolysaccharidosis type I based on bivariate normal limits: Using glycosaminoglycan and alpha-L-iduronidase determinations on dried blood spots to predict symptoms

基于双变量正常值范围的粘多糖贮积症I型新生儿筛查工具的开发:利用干血斑中糖胺聚糖和α-L-艾杜糖醛酸酶的测定来预测症状

Langan, Thomas J; Jalal, Kabir; Barczykowski, Amy L; Carter, Randy L; Stapleton, Molly; Orii, Kenji; Fukao, Toshiyuki; Kobayashi, Hironori; Yamaguchi, Seiji; Tomatsu, Shunji

Survey of quality of life, phenotypic expression, and response to treatment in Krabbe leukodystrophy

克拉伯脑白质营养不良症患者的生活质量、表型表达和治疗反应调查

Langan, Thomas J; Barczykowski, Amy; Jalal, Kabir; Sherwood, Laura; Allewelt, Heather; Kurtzberg, Joanne; Carter, Randy L