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Did you mean chulaluk kuptanon[Author] (1 results)?
Spectrum of LYST mutations in Chediak-Higashi syndrome: a report of novel variants and a comprehensive review of the literature.
Morimoto M, Nicoli ER, Kuptanon C, Roney JC, Serra-Vinardell J, Sharma P, Adams DR, Gallin JI, Holland SM, Rosenzweig SD, Barbot J, Ciccone C, Huizing M, Toro C, Gahl WA, Introne WJ, Malicdan MCV. Morimoto M, et al. Among authors: kuptanon c. J Med Genet. 2024 Feb 21;61(3):212-223. doi: 10.1136/jmg-2023-109420. J Med Genet. 2024. PMID: 37788905 Review.
Genetic, metabolic and clinical delineation of an MRPS23-associated mitochondrial disorder.
Ittiwut C, Ittiwut R, Kuptanon C, Matsuhashi T, Shimura M, Sugiyama Y, Onuki T, Ohtake A, Murayama K, Vatanavicharn N, Dejputtawat W, Tantisirivit N, Kor-Anantakul P, Kamolvisit W, Suphapeetiporn K, Shotelersuk V. Ittiwut C, et al. Among authors: kuptanon c. Sci Rep. 2023 Dec 12;13(1):22005. doi: 10.1038/s41598-023-49161-7. Sci Rep. 2023. PMID: 38086984 Free PMC article.
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.
Oral manifestations in patients and dogs with mucopolysaccharidosis Type VII.
Kantaputra PN, Smith LJ, Casal ML, Kuptanon C, Chang YC, Nampoothiri S, Paiyarom A, Veerasakulwong T, Trachoo O, Ketudat Cairns JR, Chinadet W, Tanpaiboon P. Kantaputra PN, et al. Among authors: kuptanon c. Am J Med Genet A. 2019 Mar;179(3):486-493. doi: 10.1002/ajmg.a.61034. Epub 2019 Jan 17. Am J Med Genet A. 2019. PMID: 30653816 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
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.
SLC39A4 mutation in zinc deficiency patients.
Limpongsanurak W, Kuptanon C, Singhamatr P, Singalavanija S, Sirisutthisuwan S. Limpongsanurak W, et al. Among authors: kuptanon c. J Med Assoc Thai. 2014 Jun;97 Suppl 6:S14-9. J Med Assoc Thai. 2014. PMID: 25391167
20 results