日期 影响因子
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

期刊:
影响因子:
doi:10.2147/CEOR.S542203
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
发表日期：2026
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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？

期刊:Pharmacoeconomics-Open
影响因子:2.1
doi:10.1007/s41669-025-00579-x
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
发表日期：2025
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The benefit of KidsO2 ring as a pre-screening device in pediatric obstructive sleep apnea

KidsO2 戒指作为儿童阻塞性睡眠呼吸暂停预筛查设备的益处

期刊:Sleep Medicine: X
影响因子:
doi:10.1016/j.sleepx.2025.100150
Thawongit, Sarisa; Benchachart, Phirawan; Siripornpanich, Vorasith; Thongyam, Anchana; Ratanatharathorn, Cholatid; Preutthipan, Aroonwan; Kuptanon, Teeradej
发表日期：2025
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Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature

Chediak-Higashi综合征中LYST基因突变谱：新变异体的报告及文献综述

期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmg-2023-109420
Morimoto, Marie; Nicoli, Elena-Raluca; Kuptanon, Chulaluck; Roney, Joseph C; Serra-Vinardell, Jenny; Sharma, Prashant; Adams, David R; Gallin, John I; Holland, Steven M; Rosenzweig, Sergio D; Barbot, Jose; Ciccone, Carla; Huizing, Marjan; Toro, Camilo; Gahl, William A; Introne, Wendy J; Malicdan, May Christine V
发表日期：2024
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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

期刊:Orphanet Journal of Rare Diseases
影响因子:3.4
doi:10.1186/s13023-024-03411-7
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
代谢
糖尿病
发表日期：2024
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cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome

cDNA 测序提高了 Chediak-Higashi 综合征的分子诊断效率

期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2023.1072784
Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora, Carla Ciccone, Meral Gunay-Aygun, William A Gahl, Wendy J Introne, May Christine V Malicdan
发表日期：2023
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Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients

戈谢病：泰国患者的临床表型及GBA基因突变谱的细化

期刊:Orphanet Journal of Rare Diseases
影响因子:3.5
doi:10.1186/s13023-021-02151-2
Phetthong, Tim; Tim-Aroon, Thipwimol; Khongkraparn, Arthaporn; Noojarern, Saisuda; Kuptanon, Chulaluck; Wichajarn, Khunton; Sathienkijkanchai, Achara; Suphapeetiporn, Kanya; Charoenkwan, Pimlak; Tantiworawit, Adisak; Noentong, Naruwan; Wattanasirichaigoon, Duangrurdee
发表日期：2021
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Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand

泰国婴儿型庞贝病的临床病程、基因突变及其功能特点

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-019-0878-8
Lukana Ngiwsara, Duangrurdee Wattanasirichaigoon, Thipwimol Tim-Aroon, Kitiwan Rojnueangnit, Saisuda Noojaroen, Arthaporn Khongkraparn, Phannee Sawangareetrakul, James R Ketudat-Cairns, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Jisnuson Svasti
信号转导
发表日期：2019
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p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells

泰国中度粘多糖贮积症 I 型患者中的 p.X654R IDUA 变异及其在 COS-7 细胞中的残留活性

期刊:Annals of Human Genetics
影响因子:1
doi:10.1111/ahg.12236
Lukana Ngiwsara, James R Ketudat-Cairns, Phannee Sawangareetrakul, Ratana Charoenwattanasatien, Voraratt Champattanachai, Chulaluck Kuptanon, Suthipong Pangkanon, Thipwimol Tim-Aroon, Duangrurdee Wattanasirichaigoon, Jisnuson Svasti
细胞生物学
其它细胞
发表日期：2018
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The most 5' truncating homozygous mutation of WNT1 in siblings with osteogenesis imperfecta with a variable degree of brain anomalies: a case report

骨发育不全症患儿中WNT1基因5'端截断纯合突变导致不同程度脑部异常：病例报告

期刊:BMC Medical Genetics
影响因子:
doi:10.1186/s12881-018-0639-0
Kuptanon, Chulaluck; Srichomthong, Chalurmpon; Sangsin, Apiruk; Kovitvanitcha, Dool; Suphapeetiporn, Kanya; Shotelersuk, Vorasuk
发育与干细胞
神经科学
发表日期：2018
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