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

Clinical experience with Pegvaliase in phenylketonuria: A retrospective chart review of outcomes, safety, and dosing patterns

苯丙酮尿症患者使用培伐利司的临床经验:回顾性图表分析结果、安全性和给药模式

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Cunningham, Amy; Aziz, Elise; Andersson, Hans C

Expanded Newborn Screening for Inborn Errors of Metabolism at a Single Center in Louisiana (2005-2024): Outcomes

路易斯安那州某中心扩大新生儿先天性代谢缺陷筛查(2005-2024):结果

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Aziz, Elise; Cunningham, Amy; Andersson, Hans C

Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report

新生儿筛查漏诊的硫胺素反应性枫糖尿症:病例报告

Upadia, Jariya; Noh, Grace; Crivelly, Kea; Smith, Jennifer; Andersson, Hans C

Maximal dietary responsiveness after tetrahydrobiopterin (BH4) in 19 phenylalanine hydroxylase deficiency patients: What super-responders can expect

19 例苯丙氨酸羟化酶缺乏症患者服用四氢生物蝶呤 (BH4) 后饮食反应达到最大值:超强反应者可预期什么

Upadia, Jariya; Crivelly, Kea; Noh, Grace; Cunningham, Amy; Cerminaro, Caroline; Li, Yuwen; Mckoin, Meredith; Chenevert, Madeline; Andersson, Hans C

Use of pegvaliase in the management of phenylketonuria: Case series of early experience in US clinics

培伐利酶在苯丙酮尿症治疗中的应用:美国诊所早期经验病例系列

Adams, Darius; Andersson, Hans C; Bausell, Heather; Crivelly, Kea; Eggerding, Caroline; Lah, Melissa; Lilienstein, Joshua; Lindstrom, Kristin; McNutt, Markey; Ray, Joseph W; Saavedra, Heather; Sacharow, Stephanie; Starin, Danielle; Tiffany-Amaro, Jennifer; Thomas, Janet; Vucko, Erika; Wessenberg, Leah B; Whitehall, Kaleigh

Oral D-galactose supplementation in PGM1-CDG

PGM1-CDG 患者口服 D-半乳糖补充剂

Wong, Sunnie Yan-Wai; Gadomski, Therese; van Scherpenzeel, Monique; Honzik, Tomas; Hansikova, Hana; Holmefjord, Katja S Brocke; Mork, Marit; Bowling, Francis; Sykut-Cegielska, Jolanta; Koch, Dieter; Hertecant, Jozef; Preston, Graeme; Jaeken, Jaak; Peeters, Nicole; Perez, Stefanie; Nguyen, David Do; Crivelly, Kea; Emmerzaal, Tim; Gibson, K Michael; Raymond, Kimiyo; Abu Bakar, Nurulamin; Foulquier, Francois; Poschet, Gernot; Ackermann, Amanda M; He, Miao; Lefeber, Dirk J; Thiel, Christian; Kozicz, Tamas; Morava, Eva

False-Positive Newborn Screen Using the Beutler Spot Assay for Galactosemia in Glucose-6-Phosphate Dehydrogenase Deficiency

使用 Beutler 斑点试验检测半乳糖血症时,葡萄糖-6-磷酸脱氢酶缺乏症会导致新生儿筛查出现假阳性结果

Stuhrman, Grace; Perez Juanazo, Stefanie J; Crivelly, Kea; Smith, Jennifer; Andersson, Hans; Morava, Eva