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

COASY-Associated Disorders as a Differential Diagnosis in Cases with Newborn Screening Results Suggestive of CPT-I

COASY相关疾病作为新生儿筛查结果提示CPT-I病例的鉴别诊断

Stander, Zinandré; White, Amy L; Lynch, Matthew; Coman, David; Rosati, Justin; Bailey, Diana; Johnson, Jessica; Lee, Bo Hoon; Fong, ChinTo; Orsini, Joseph; Schultz, Matthew J; Oglesbee, Devin; Gavrilov, Dimitar; Matern, Dietrich; Hall, Patricia L; Tortorelli, Silvia

Expert Recommendations for Rapid Response to Positive Newborn Screen for Infantile Krabbe Disease

专家建议对新生儿克拉伯病筛查阳性结果迅速做出反应

Thompson Stone, Robert; White, Amy L; Rubin, Jennifer P; Rajan, Deepa Soundara; Matern, Dietrich; Kurtzberg, Joanne; Orsini, Joseph J; Shenoy, Shalini; Mallack, Eric J; Ream, Margie A

Plasma Metabolomics, Lipidomics, and Acylcarnitines Are Associated With Vision and Genotype but Not With Dietary Intake in Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency (LCHADD)

血浆代谢组学、脂质组学和酰基肉碱与长链 3-羟酰辅酶A脱氢酶缺乏症 (LCHADD) 患者的视力和基因型相关,但与膳食摄入量无关。

Chung, Hak; Choi, Dongseok; Gregor, Ashley; Sim, Elaine; Lau, Alison; Black, Danielle; Scanga, Hannah L; Linshinski, Angela; Pennesi, Mark E; Sahel, Jose-Alain; Nischal, Ken K; Yang, Paul; Everett, Lesley; Vockley, Jerry; Matern, Dietrich; Harding, Cary O; Gillingham, Melanie B

College of American Pathologists (CAP)/American College of Medical Genetics and Genomics (ACMG) proficiency testing for urinary glycosaminoglycan analysis: A summary of performance

美国病理学家协会 (CAP)/美国医学遗传学与基因组学学会 (ACMG) 尿糖胺聚糖分析能力验证:性能总结

Cusmano-Ozog, Kristina; Matern, Dietrich; Long, Thomas; Longo, Nicola; Young, Sarah

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements

新生儿克拉伯病筛查:现状及改进建议

Matern, Dietrich; Basheeruddin, Khaja; Klug, Tracy L; McKee, Gwendolyn; Edge, Patricia U; Hall, Patricia L; Kurtzberg, Joanne; Orsini, Joseph J

It's time to reconsider the newborn screening RUSP prospective pilot study "N of 1" rule

是时候重新考虑新生儿筛查RUSP前瞻性试点研究的“N=1”规则了。

Gelb, Michael H; Matern, Dietrich; Ellinwood, Matthew; Gaviglio, Amy

Pre-analytic decrease of phenylalanine in plasma of patients with phenylketonuria treated with pegvaliase

接受培伐利司治疗的苯丙酮尿症患者血浆中苯丙氨酸的分析前降低

Turgeon, Coleman; Casas, Kari; Flanagan, Ryan; White, Amy; Peck, Dawn; Pino, Gisele Bentz; Jones, April Studinski; Gavrilov, Dimitar; Oglesbee, Devin; Schultz, Matthew J; Tortorelli, Silvia; Matern, Dietrich; Hall, Patricia L

Liquid Chromatography-Tandem Mass Spectrometry in Newborn Screening Laboratories

液相色谱-串联质谱法在新生儿筛查实验室中的应用

Gelb, Michael H; Basheeruddin, Khaja; Burlina, Alberto; Chen, Hsiao-Jan; Chien, Yin-Hsiu; Dizikes, George; Dorley, Christine; Giugliani, Roberto; Hietala, Amy; Hong, Xinying; Kao, Shu-Min; Khaledi, Hamid; Klug, Tracy; Kubaski, Francyne; Liao, Hsuan-Chieh; Martin, Monica; Manning, Adrienne; Orsini, Joseph; Peng, Yin; Ranieri, Enzo; Rohrwasser, Andreas; Szabo-Fresnais, Nicolas; Turgeon, Coleman T; Vaz, Frédérick M; Wang, Li-Yun; Matern, Dietrich

Prevalence of SARS-CoV-2 Antibodies in a Multistate Academic Medical Center

一家跨州学术医疗中心SARS-CoV-2抗体的流行情况

Carter, Rickey E; Theel, Elitza S; Breeher, Laura E; Swift, Melanie D; Van Brunt, Nathan A; Smith, Windell R; Blanchfield, Lorrie L; Daugherty, Elizabeth A; Chapital, Alyssa B; Matson, Kathleen M; Bews, Katherine A; Johnson, Patrick W; Domnick, Robert A; Joyce, Diane E; Geyer, Holly L; Granger, Dane; Hilgart, Heather R; Turgeon, Coleman T; Sanders, Karen A; Matern, Dietrich; Nassar, Aziza; Sampathkumar, Priya; Hainy, Caitlin M; Orford, Robert R; Vachon, Celine M; Didehban, Roshanak; Morice, William G; Ting, Henry H; Williams, Amy W; Gray, Richard J; Thielen, Kent R; Farrugia, Gianrico

Low Psychosine in Krabbe Disease with Onset in Late Infancy: A Case Report

克拉伯病患者在婴儿晚期发病,伴有低精神苷脂血症:病例报告

Corre, Camille S; Matern, Dietrich; Pellegrino, Joan E; Saavedra-Matiz, Carlos A; Orsini, Joseph J; Thompson-Stone, Robert