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Page 1
Gaucher disease: clinical phenotypes and refining GBA mutational spectrum in Thai patients.
Phetthong T, Tim-Aroon T, Khongkraparn A, Noojarern S, Kuptanon C, Wichajarn K, Sathienkijkanchai A, Suphapeetiporn K, Charoenkwan P, Tantiworawit A, Noentong N, Wattanasirichaigoon D. Phetthong T, et al. Among authors: kuptanon c. Orphanet J Rare Dis. 2021 Dec 20;16(1):519. doi: 10.1186/s13023-021-02151-2. Orphanet J Rare Dis. 2021. PMID: 34930372 Free PMC article.
p.X654R IDUA variant among Thai individuals with intermediate mucopolysaccharidosis type I and its residual activity as demonstrated in COS-7 cells.
Ngiwsara L, Ketudat-Cairns JR, Sawangareetrakul P, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Tim-Aroon T, Wattanasirichaigoon D, Svasti J. Ngiwsara L, et al. Among authors: kuptanon c. Ann Hum Genet. 2018 May;82(3):150-157. doi: 10.1111/ahg.12236. Epub 2017 Dec 28. Ann Hum Genet. 2018. PMID: 29282708
Clinical course, mutations and its functional characteristics of infantile-onset Pompe disease in Thailand.
Ngiwsara L, Wattanasirichaigoon D, Tim-Aroon T, Rojnueangnit K, Noojaroen S, Khongkraparn A, Sawangareetrakul P, Ketudat-Cairns JR, Charoenwattanasatien R, Champattanachai V, Kuptanon C, Pangkanon S, Svasti J. Ngiwsara L, et al. Among authors: kuptanon c. BMC Med Genet. 2019 Sep 11;20(1):156. doi: 10.1186/s12881-019-0878-8. BMC Med Genet. 2019. PMID: 31510962 Free PMC article.
Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Kamolvisit W, Phowthongkum P, Boonsimma P, Kuptanon C, Rojnueangnit K, Wattanasirichaigoon D, Chanvanichtrakool M, Phuaksaman C, Wiromrat P, Srichomthong C, Ittiwut C, Phokaew C, Ittiwut R, Assawapitaksakul A, Chetruengchai W, Buasong A, Suphapeetiporn K, Shotelersuk V. Kamolvisit W, et al. Among authors: kuptanon c. Clin Genet. 2021 Jul;100(1):100-105. doi: 10.1111/cge.13963. Epub 2021 Apr 13. Clin Genet. 2021. PMID: 33822359
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand.
Thiboonboon K, Leelahavarong P, Wattanasirichaigoon D, Vatanavicharn N, Wasant P, Shotelersuk V, Pangkanon S, Kuptanon C, Chaisomchit S, Teerawattananon Y. Thiboonboon K, et al. Among authors: kuptanon c. PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015. PLoS One. 2015. PMID: 26258410 Free PMC article.
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