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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: wattanasirichaigoon d. 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.
Enhancing Equitable Access to Rare Disease Diagnosis and Treatment around the World: A Review of Evidence, Policies, and Challenges.
Adachi T, El-Hattab AW, Jain R, Nogales Crespo KA, Quirland Lazo CI, Scarpa M, Summar M, Wattanasirichaigoon D. Adachi T, et al. Among authors: wattanasirichaigoon d. Int J Environ Res Public Health. 2023 Mar 8;20(6):4732. doi: 10.3390/ijerph20064732. Int J Environ Res Public Health. 2023. PMID: 36981643 Free PMC article. Review.
Molecular characterization of type 3 (neuronopathic) Gaucher disease in Thai patients.
Suwannarat P, Keeratichamroen S, Wattanasirichaigoon D, Ngiwsara L, Cairns JR, Svasti J, Visudtibhan A, Pangkanon S. Suwannarat P, et al. Among authors: wattanasirichaigoon d. Blood Cells Mol Dis. 2007 Nov-Dec;39(3):348-52. doi: 10.1016/j.bcmd.2007.06.015. Epub 2007 Aug 8. Blood Cells Mol Dis. 2007. PMID: 17689991
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia.
Vatanavicharn N, Champattanachai V, Liammongkolkul S, Sawangareetrakul P, Keeratichamroen S, Ketudat Cairns JR, Srisomsap C, Sathienkijkanchai A, Shotelersuk V, Kamolsilp M, Wattanasirichaigoon D, Svasti J, Wasant P. Vatanavicharn N, et al. Among authors: wattanasirichaigoon d. Mol Genet Metab. 2012 Aug;106(4):424-9. doi: 10.1016/j.ymgme.2012.05.012. Epub 2012 May 29. Mol Genet Metab. 2012. PMID: 22695176
A common and two novel GBA mutations in Thai patients with Gaucher disease.
Tammachote R, Tongkobpetch S, Srichomthong C, Phipatthanananti K, Pungkanon S, Wattanasirichaigoon D, Suphapeetiporn K, Shotelersuk V. Tammachote R, et al. Among authors: wattanasirichaigoon d. J Hum Genet. 2013 Sep;58(9):594-9. doi: 10.1038/jhg.2013.60. Epub 2013 May 30. J Hum Genet. 2013. PMID: 23719189
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: wattanasirichaigoon d. PLoS One. 2015 Aug 10;10(8):e0134782. doi: 10.1371/journal.pone.0134782. eCollection 2015. PLoS One. 2015. PMID: 26258410 Free PMC article.
Molecular analysis of the novel IDS allele in a Thai family with mucopolysaccharidosis type II: The c.928C>T (p.Gln310*) transcript is sensitive to nonsense-mediated mRNA decay.
Ngiwsara L, Rojnueangnit K, Wattanasirichaigoon D, Tim-Aroon T, Sawangareetrakul P, Champattanachai V, Ketudat-Cairns JR, Svasti J. Ngiwsara L, et al. Among authors: wattanasirichaigoon d. Exp Ther Med. 2017 Jun;13(6):2989-2996. doi: 10.3892/etm.2017.4303. Epub 2017 Apr 5. Exp Ther Med. 2017. PMID: 28588666 Free PMC article.
Chromosomal microarray analysis in a cohort of underrepresented population identifies SERINC2 as a novel candidate gene for autism spectrum disorder.
Hnoonual A, Thammachote W, Tim-Aroon T, Rojnueangnit K, Hansakunachai T, Sombuntham T, Roongpraiwan R, Worachotekamjorn J, Chuthapisith J, Fucharoen S, Wattanasirichaigoon D, Ruangdaraganon N, Limprasert P, Jinawath N. Hnoonual A, et al. Among authors: wattanasirichaigoon d. Sci Rep. 2017 Sep 21;7(1):12096. doi: 10.1038/s41598-017-12317-3. Sci Rep. 2017. PMID: 28935972 Free PMC article.
92 results