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

2025 Consensus Clinical Management Guidelines for Niemann-Pick Disease Type C

2025年尼曼-匹克病C型共识临床管理指南

Hiwot, Tarekegn; Porter, Forbes D; Bremova-Ertl, Tatiana; Ramaswami, Uma; Hastings, Caroline; Héron, Bénédicte; Hopkin, Justin; Melville, Joella; Amartino, Hernan; Del Toro, Mireia; Deodato, Federica; Ezgü, Fatih; Gissen, Paul; Gibson, James B; Ficicioglu, Can; Giugliani, Roberto; Staretz-Chacham, Orna; Platt, Frances; Guffon, Nathalie; Julich, Kristina; Kresojević, Nikola; Lehman, Anna; Nadjar, Yann; Schneider, Susanne A; Jones, Simon; Mengel, Eugen; Tchan, Michel; Walterfang, Mark; Goker-Alpan, Ozlem; Dawson, Charlotte; Cowie, Sandra; Mathieson, Toni; Berry-Kravis, Elizabeth; Patterson, Marc C

Bioenergetic Signatures of DLD Deficiency: Dissecting PDHc- and α-KGDHc-Linked Defects

DLD 缺乏症的生物能量学特征:剖析 PDHc 和 α-KGDHc 相关缺陷

Haham Zarbib, Yarden; Huri Ohev-Shalom, Shira; Lyskov, Shani Kassia; Mazor, Yuval; Anekstein-Spigel, Mika; Shalva, Nechama; Spiegel, Ronen; Staretz-Chacham, Orna; Manor, Joshua; Saada, Ann; Rock, Rachel; Anikster, Yair; Yardeni, Tal

Predischarge Betamethasone in Infants Diagnosed With Bronchopulmonary Dysplasia

支气管肺发育不良患儿出院前使用倍他米松

Ernest, Tal-El; Ozalvo, Doreen; Staretz-Chacham, Orna; Marks, Kyla A; Shany, Eilon; Landau, Daniela; Richardson, Justin

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter

SLC30A5 变异影响 ZnT5 锌转运蛋白的功能,导致新生儿严重肌张力低下。

Dolgin, Vadim; Chabosseau, Pauline; Bistritzer, Jacob; Noyman, Iris; Staretz-Chacham, Orna; Wormser, Ohad; Hadar, Noam; Eskin-Schwartz, Marina; Kanengisser-Pines, Bibi; Narkis, Ginat; Abramsky, Ramy; Shany, Eilon; Rutter, Guy A; Marks, Kyla; Birk, Ohad S

Parental perspective in children with Down syndrome from a tertiary care center of foothills Himalayan region of India

来自印度喜马拉雅山麓地区一家三级医疗中心的唐氏综合征患儿家长视角

Gaire, Hari; Jain, Shubhra; Verma, Prashant K; Rohilla, Jitendra; Bhadoria, Ajeet; Jangid, Amit; Chacham, Swathi

Assessing Aquatic Readiness as a Health-Enhancing Measure in Young Swimmers with Physical Disabilities: The Revised Aquatic Independence Measure (AIM-2)

评估水上运动能力作为促进身体残疾青少年游泳运动员健康的一项指标:修订版水上独立性评估(AIM-2)

Chacham-Guber, Anat; Sapir, Yadin; Goral, Aviva; Hutzler, Yeshayahu

Biochemical and neurophysiological effects of deficiency of the mitochondrial import protein TIMM50

线粒体输入蛋白TIMM50缺乏的生化和神经生理效应

Eyal Paz # ,Sahil Jain # ,Irit Gottfried ,Orna Staretz-Chacham ,Muhammad Mahajnah ,Pritha Bagchi ,Nicholas T Seyfried ,Uri Ashery ,Abdussalam Azem

Micronutrient status and associated factors of anemia among undernourished children of 5-18 years: First study from Himalayan foothills

5-18岁营养不良儿童微量营养素状况及贫血相关因素:喜马拉雅山麓首例研究

Aswanth, K S; Rajvanshi, Nikhil; Kumar, Vinod; Chacham, Swathi; Naithani, Manisha; Kumari, Ranjeeta; Verma, Prashant K

Dystonia in a child with neurocysticercosis mimicking neuro Wilson disease

患有神经囊虫病的儿童出现肌张力障碍,症状类似神经威尔逊病

Ahmad, Najeeb; Chacham, Swathi; Rathaur, Vyas Kumar

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation

双等位基因 SLC25A36 突变引起的高胰岛素血症/高氨血症综合征

Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ekaterina Eremenko, Sarit Aharoni, Ofek Freund, Matan M Jean, Nadav Agam, Noam Hadar, Neta Loewenthal, Orna Staretz-Chacham, Ohad S Birk