Duangrurdee相关文献与解析，生知库 | 链接生命科学的每一步

Kamlungkuea, Threebhorn; Tongprasert, Fuanglada; Wattanasirichaigoon, Duangrurdee; Kumfu, Sirinart; Chattipakorn, Siriporn C; Chattipakorn, Nipon; Tongsong, Theera

发表日期：2026

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A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype

一例染色体11pter 8.9 Mb重复和11qter 6.4 Mb缺失的新生病例，其父亲核型正常。

期刊:Clinical Dysmorphology

影响因子:0.5

doi:10.1097/MCD.0000000000000550

Pakhathirathien, Pattima; Vaseenon, Hathaipat; Thammachote, Weerin; Songpatanasilp, Chayanist; Sinpitak, Praweena; Tocharoentanaphol, Chintana; Jinawath, Natini; Wattanasirichaigoon, Duangrurdee

发表日期：2026

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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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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

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-18038-2

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

发表日期：2025

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New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review

垂体重复综合征新病例报告，包括PTCH2变异型病例及文献综述

期刊:Journal of Medical Genetics

影响因子:3.7

doi:10.1136/jmg-2024-110417

Buasri, Kochakorn; Pakhathirathien, Pattima; Sananmuang, Thiparom; Dumrongwongsiri, Sarayuth; Thatrimontrichai, Anucha; Maneenil, Gunlawadee; Khongkraparn, Arthaporn; Ngiwsara, Lukana; Sawangareetrakul, Phannee; Svasti, Jisnuson; Slavotinek, Anne; Wattanasirichaigoon, Duangrurdee

免疫/内分泌

发表日期：2025

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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

期刊:Frontiers in Medicine

影响因子:3

doi:10.3389/fmed.2025.1566417

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

Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand

扩大无创产前检测非整倍体临床表现：泰国真实世界经验

期刊:BMC Pregnancy and Childbirth

影响因子:2.7

doi:10.1186/s12884-025-08303-7

Chansriniyom, Nareenun; Panburana, Panyu; Chantratita, Wasun; Sensorn, Insee; Wattanasirichaigoon, Duangrurdee; Prakobpanich, Maneerat; Nimnoo, Sthaporn; Tangshewinsirikul, Chayada

发表日期：2025

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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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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

期刊:JIMD Reports

影响因子:1.8

doi:10.1002/jmd2.70028

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

代谢

发表日期：2025

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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

Application of Prenatal Whole Exome Sequencing for Congenital Heart Anomalies

产前全外显子组测序在先天性心脏畸形诊断中的应用

A case with a de novo chromosome 8.9 Mb 11pter duplication and 6.4 Mb 11qter deletion derived from a father with a normal karyotype

一例染色体11pter 8.9 Mb重复和11qter 6.4 Mb缺失的新生病例，其父亲核型正常。

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

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

New patients with duplication of the pituitary gland-plus syndrome, including a PTCH2 variant and a literature review

垂体重复综合征新病例报告，包括PTCH2变异型病例及文献综述

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

Clinical performance of expanded non-invasive prenatal testing for aneuploidies: a real-world experience in Thailand

扩大无创产前检测非整倍体临床表现：泰国真实世界经验

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？

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

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