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

Impacts and Economic Burden of Pompe Disease on Patients and Families in Thailand: A Mixed Method Study

庞贝病对泰国患者及其家庭的影响和经济负担:一项混合方法研究

Youngkong, Sitaporn; Thavorncharoensap, Montarat; Chaikledkaew, Usa; Luangsinsiri, Chaisiri; Tim-Aroon, Thipwimol; Kuptanon, Chulaluck; Sathienkijkanchai, Achara; Rojnueangnit, Kitiwan; Wichajarn, Khunton; Boonyawat, Boonchai; Suphapeetiporn, Kanya; Wattanasirichaigoon, Duangrurdee

Diagnostic yield of whole exome sequencing with targeted gene analysis in prelingual sensorineural hearing loss in Thailand

全外显子组测序结合靶向基因分析在泰国语前感音神经性听力损失诊断中的应用价值

Damrongchietanon, Tasyakorn; Wattanasirichaigoon, Duangrurdee; Khongkraparn, Arthaporn; Noojarern, Saisuda; Tiravanitchakul, Rattinan; Kasemkosin, Nittaya; Kiatthanabumrung, Sivaporn; Tim-Aroon, Thipwimol; Wongkittichote, Parith

Prenatal carrier screening for spinal muscular atrophy among pregnant Thai women

对泰国孕妇进行脊髓性肌萎缩症产前携带者筛查

Tangshewinsirikul, Chayada; Panburana, Panyu; Prakobpanich, Maneerat; Chareonsirisuthigul, Takol; Dejsuphong, Donniphat; Tim-Aroon, Thipwimol; Khongkhatithum, Chaiyos; Sura, Thanyachai; Tunteeratum, Atchara; Wattanasirichaigoon, Duangrurdee

Assessing the Value for Money of Enzyme Replacement Therapy in Gaucher Disease Types 1 and 3b: Can Expanded Coverage Be Justified?

评估戈谢病 1 型和 3b 型酶替代疗法的性价比:扩大覆盖范围是否合理?

Rattanavipapong, Waranya; Anothaisintawee, Thunyarat; Isaranuwatchai, Wanrudee; Wattanasirichaigoon, Duangrurdee; Tim-Aroon, Thipwimol; Wichajarn, Khunton; Sathienkijkanchai, Achara; Charoenkwan, Pimlak; Suphapeetiporn, Kanya; Traivaree, Chanchai; Kuptanon, Chulaluck; Teerawattananon, Yot

HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease

HMG-CoA合成酶-2缺乏症:新生儿高氨血症昏迷和代谢筛查异常,类似枫糖尿症

Vaseenon, Hathaipat; Tim-Aroon, Thipwimol; Saengow, Vitchayaporn Emarach; Sangcakul, Areeporn; Wongkittichote, Parith; Khongkraparn, Arthaporn; Wattanasirichaigoon, Duangrurdee

An increase in ER stress and unfolded protein response in iPSCs-derived neuronal cells from neuronopathic Gaucher disease patients

神经性戈谢病患者的 iPSC 衍生神经元细胞中内质网应激和未折叠蛋白反应增强

Tanapat Pornsukjantra, Nongluk Saikachain, Nareerat Sutjarit, Arthaporn Khongkrapan, Alisa Tubsuwan, Kanit Bhukhai, Thipwimol Tim-Aroon, Usanarat Anurathapan, Suradej Hongeng, Nithi Asavapanumas

Exploring molecular spectrum in thai patients with maple syrup urine disease: unveiling a common variant

探索泰国枫糖尿病患者的分子谱:揭示一种常见变异

Panisara Lakkhana, Thipwimol Tim-Aroon, Arthaporn Khongkraparn, Saisuda Noojarern, Parith Wongkittichote, Khunton Wichajarn, Chulaluck Kuptanon, Boonchai Boonyawat, Kanya Suphapeetiporn, Karn Wejaphikul, GoHun Seo, Duangrurdee Wattanasirichaigoon

Therapeutic delivery of recombinant glucocerebrosidase enzyme-containing extracellular vesicles to human cells from Gaucher disease patients

将含有重组葡糖脑苷脂酶的细胞外囊泡治疗性递送至戈谢病患者的人类细胞

Keatdamrong Janpipatkul # ,Nareerat Sutjarit # ,Amornrat Tangprasittipap ,Tai Chaiamarit ,Pawarit Innachai ,Kanoknetr Suksen ,Tanida Chokpanuwat ,Thipwimol Tim-Aroon ,Usanarat Anurathapan ,Natee Jearawiriyapaisarn ,Alisa Tubsuwan ,Supareak Bowornpinyo ,Nithi Asavapanumas ,Arthit Chairoungdua ,Kanit Bhukhai ,Suradej Hongeng

Prenatal Sonographic Features of Noonan Syndrome: Case Series and Literature Review

努南综合征的产前超声特征:病例系列及文献综述

Tangshewinsirikul, Chayada; Wattanasirichaigoon, Duangrurdee; Tim-Aroon, Thipwimol; Promsonthi, Patama; Katanyuwong, Poomiporn; Diawtipsukon, Sanpon; Chansriniyom, Nareenun; Tongsong, Theera

Parental Awareness, Knowledge, and Attitudes Regarding Current and Future Newborn Bloodspot Screening: The First Report from Thailand

泰国首份报告:家长对当前及未来新生儿血斑筛查的认知、知识和态度

Wilaiwongsathien, Kalyarat; Wattanasirichaigoon, Duangrurdee; Rattanasiri, Sasivimol; Aonnuam, Chanatpon; Tangshewinsirikul, Chayada; Tim-Aroon, Thipwimol