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

Hereditary orotic aciduria identified by newborn screening

新生儿筛查发现的遗传性乳清酸尿症

Staretz-Chacham, Orna; Damseh, Nadirah S; Daas, Suha; Abu Salah, Nasser; Anikster, Yair; Barel, Ortal; Dumin, Elena; Fattal-Valevski, Aviva; Falik-Zaccai, Tzipora C; Hershkovitz, Eli; Josefsberg, Sagi; Landau, Yuval; Lerman-Sagie, Tally; Mandel, Hanna; Rock, Rachel; Rostami, Nira; Saraf-Levy, Talya; Shaul Lotan, Nava; Spiegel, Ronen; Tal, Galit; Ulanovsky, Igor; Wilnai, Yael; Korman, Stanley H; Almashanu, Shlomo

Individualized Assessment of Exercise Capacity in Response to Acute and Long-Term Enzyme Replacement Therapy in Pediatric Pompe Disease

儿童庞贝病急性期和长期酶替代疗法后运动能力的个体化评估

Bar-Yoseph, Ronen; Tal, Galit; Dumin, Elena; Hanna, Moneera; Mainzer, Gur; Zucker-Toledano, Merav; Shallufi, George; Jahshan, Mira; Mandel, Hanna; Bentur, Lea

A recurring NFS1 pathogenic variant causes a mitochondrial disorder with variable intra-familial patient outcomes

一种反复出现的NFS1致病变异会导致线粒体疾病,且家族内患者的预后差异很大。

Hershkovitz, Tova; Kurolap, Alina; Tal, Galit; Paperna, Tamar; Mory, Adi; Staples, Jeffrey; Brigatti, Karlla W; Gonzaga-Jauregui, Claudia; Dumin, Elena; Saada, Ann; Mandel, Hanna; Baris Feldman, Hagit

Nuclear compartmentalization of serine racemase regulates d-serine production. IMPLICATIONS FOR N-METHYL-d-ASPARTATE (NMDA) RECEPTOR ACTIVATION

丝氨酸消旋酶的核区室化调控D-丝氨酸的生成。对N-甲基-D-天冬氨酸(NMDA)受体激活的影响

Kolodney, Goren; Dumin, Elena; Safory, Hazem; Rosenberg, Dina; Mori, Hisashi; Radzishevsky, Inna; Wolosker, Herman

Cortisol-Metabolizing Enzymes in Polycystic Ovary Syndrome

多囊卵巢综合征中的皮质醇代谢酶

Blumenfeld, Zeev; Kaidar, Gabi; Zuckerman-Levin, Nehama; Dumin, Elena; Knopf, Carlos; Hochberg, Ze'ev

Nuclear Compartmentalization of Serine Racemase Regulates D-Serine Production: IMPLICATIONS FOR N-METHYL-D-ASPARTATE (NMDA) RECEPTOR ACTIVATION.

丝氨酸消旋酶的核区室化调节 D-丝氨酸的产生:对 N-甲基-D-天冬氨酸 (NMDA) 受体激活的影响

Kolodney Goren, Dumin Elena, Safory Hazem, Rosenberg Dina, Mori Hisashi, Radzishevsky Inna, Wolosker Herman