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

Evidence- and consensus-based recommendations for the use of pegvaliase in adults with phenylketonuria

基于证据和共识的关于在成人苯丙酮尿症中使用培伐利酶的建议

Longo, Nicola; Dimmock, David; Levy, Harvey; Viau, Krista; Bausell, Heather; Bilder, Deborah A; Burton, Barbara; Gross, Christel; Northrup, Hope; Rohr, Fran; Sacharow, Stephanie; Sanchez-Valle, Amarilis; Stuy, Mary; Thomas, Janet; Vockley, Jerry; Zori, Roberto; Harding, Cary O

Mudd's disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes

穆德氏病(MAT I/III 缺乏症):MAT1A 纯合子和复合杂合子数据调查

Chien, Yin-Hsiu; Abdenur, Jose E; Baronio, Federico; Bannick, Allison Anne; Corrales, Fernando; Couce, Maria; Donner, Markus G; Ficicioglu, Can; Freehauf, Cynthia; Frithiof, Deborah; Gotway, Garrett; Hirabayashi, Koichi; Hofstede, Floris; Hoganson, George; Hwu, Wuh-Liang; James, Philip; Kim, Sook; Korman, Stanley H; Lachmann, Robin; Levy, Harvey; Lindner, Martin; Lykopoulou, Lilia; Mayatepek, Ertan; Muntau, Ania; Okano, Yoshiyuki; Raymond, Kimiyo; Rubio-Gozalbo, Estela; Scholl-Bürgi, Sabine; Schulze, Andreas; Singh, Rani; Stabler, Sally; Stuy, Mary; Thomas, Janet; Wagner, Conrad; Wilson, William G; Wortmann, Saskia; Yamamoto, Shigenori; Pao, Maryland; Blom, Henk J

Refeeding syndrome in a young woman with argininosuccinate lyase deficiency

一名患有精氨酸琥珀酸裂解酶缺乏症的年轻女性出现再喂养综合征

Stuy, M; Chen, G-F; Masonek, J M; Scharschmidt, B F

Intermediate MCAD Deficiency Associated with a Novel Mutation of the ACADM Gene: c.1052C>T

与ACADM基因新突变相关的中间型MCAD缺乏症:c.1052C>T

Drendel, Holli M; Pike, Jason E; Schumacher, Katherine; Ouyang, Karen; Wang, Jing; Stuy, Mary; Dlouhy, Stephen; Bai, Shaochun

ReplicationDomain: a visualization tool and comparative database for genome-wide replication timing data

ReplicationDomain:一个用于全基因组复制时间数据的可视化工具和比较数据库

Weddington, Nodin; Stuy, Alexander; Hiratani, Ichiro; Ryba, Tyrone; Yokochi, Tomoki; Gilbert, David M

Cloning, characterization, and DNA base sequence of the high-level streptomycin resistance gene strA1 of Haemophilus influenzae Rd

流感嗜血杆菌Rd菌株高水平链霉素抗性基因strA1的克隆、鉴定和DNA碱基序列分析

Stuy, J H; Walter, R B

Cloning and characterization of the Haemophilus influenzae Rd rec-1+ gene

流感嗜血杆菌Rd rec-1+基因的克隆和鉴定

Stuy, J H

Mechanism of additive genetic transformation in Haemophilus influenzae

流感嗜血杆菌的加性遗传转化机制

Stuy, J H