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Page 1
Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Arnold GL, Salazar D, Neidich JA, Suwannarat P, Graham BH, Lichter-Konecki U, Bosch AM, Cusmano-Ozog K, Enns G, Wright EL, Lanpher BC, Owen NN, Lipson MH, Cerone R, Levy P, Wong LJ, Dezsofi A. Arnold GL, et al. Among authors: suwannarat p. Mol Genet Metab. 2012 Aug;106(4):439-41. doi: 10.1016/j.ymgme.2012.04.006. Epub 2012 Apr 20. Mol Genet Metab. 2012. PMID: 22658692
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas.
Piotrowski A, Xie J, Liu YF, Poplawski AB, Gomes AR, Madanecki P, Fu C, Crowley MR, Crossman DK, Armstrong L, Babovic-Vuksanovic D, Bergner A, Blakeley JO, Blumenthal AL, Daniels MS, Feit H, Gardner K, Hurst S, Kobelka C, Lee C, Nagy R, Rauen KA, Slopis JM, Suwannarat P, Westman JA, Zanko A, Korf BR, Messiaen LM. Piotrowski A, et al. Among authors: suwannarat p. Nat Genet. 2014 Feb;46(2):182-7. doi: 10.1038/ng.2855. Epub 2013 Dec 22. Nat Genet. 2014. PMID: 24362817 Free PMC article.
A 3-year randomized therapeutic trial of nitisinone in alkaptonuria.
Introne WJ, Perry MB, Troendle J, Tsilou E, Kayser MA, Suwannarat P, O'Brien KE, Bryant J, Sachdev V, Reynolds JC, Moylan E, Bernardini I, Gahl WA. Introne WJ, et al. Among authors: suwannarat p. Mol Genet Metab. 2011 Aug;103(4):307-14. doi: 10.1016/j.ymgme.2011.04.016. Epub 2011 May 6. Mol Genet Metab. 2011. PMID: 21620748 Free PMC article. Clinical Trial.
Aortic stenosis and vascular calcifications in alkaptonuria.
Hannoush H, Introne WJ, Chen MY, Lee SJ, O'Brien K, Suwannarat P, Kayser MA, Gahl WA, Sachdev V. Hannoush H, et al. Among authors: suwannarat p. Mol Genet Metab. 2012 Feb;105(2):198-202. doi: 10.1016/j.ymgme.2011.10.017. Epub 2011 Oct 30. Mol Genet Metab. 2012. PMID: 22100375 Free PMC article.
Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann-Steiner syndrome.
Sheppard SE, Campbell IM, Harr MH, Gold N, Li D, Bjornsson HT, Cohen JS, Fahrner JA, Fatemi A, Harris JR, Nowak C, Stevens CA, Grand K, Au M, Graham JM Jr, Sanchez-Lara PA, Campo MD, Jones MC, Abdul-Rahman O, Alkuraya FS, Bassetti JA, Bergstrom K, Bhoj E, Dugan S, Kaplan JD, Derar N, Gripp KW, Hauser N, Innes AM, Keena B, Kodra N, Miller R, Nelson B, Nowaczyk MJ, Rahbeeni Z, Ben-Shachar S, Shieh JT, Slavotinek A, Sobering AK, Abbott MA, Allain DC, Amlie-Wolf L, Au PYB, Bedoukian E, Beek G, Barry J, Berg J, Bernstein JA, Cytrynbaum C, Chung BH, Donoghue S, Dorrani N, Eaton A, Flores-Daboub JA, Dubbs H, Felix CA, Fong CT, Fung JLF, Gangaram B, Goldstein A, Greenberg R, Ha TK, Hersh J, Izumi K, Kallish S, Kravets E, Kwok PY, Jobling RK, Knight Johnson AE, Kushner J, Lee BH, Levin B, Lindstrom K, Manickam K, Mardach R, McCormick E, McLeod DR, Mentch FD, Minks K, Muraresku C, Nelson SF, Porazzi P, Pichurin PN, Powell-Hamilton NN, Powis Z, Ritter A, Rogers C, Rohena L, Ronspies C, Schroeder A, Stark Z, Starr L, Stoler J, Suwannarat P, Velinov M, Weksberg R, Wilnai Y, Zadeh N, Zand DJ, Falk MJ, Hakonarson H, Zackai EH, Quintero-Rivera F. Sheppard SE, et al. Among authors: suwannarat p. Am J Med Genet A. 2021 Jun;185(6):1649-1665. doi: 10.1002/ajmg.a.62124. Epub 2021 Mar 30. Am J Med Genet A. 2021. PMID: 33783954 Free PMC article.
Disorders of free sialic acid.
Suwannarat P. Suwannarat P. Mol Genet Metab. 2005 Jun;85(2):85-7. doi: 10.1016/j.ymgme.2005.04.005. Mol Genet Metab. 2005. PMID: 15973781 Review. No abstract available.
Molecular analysis of the iduronate-2-sulfatase gene in Thai patients with Hunter syndrome.
Keeratichamroen S, Cairns JR, Wattanasirichaigoon D, Wasant P, Ngiwsara L, Suwannarat P, Pangkanon S, Kuptanon J, Tanpaiboon P, Rujirawat T, Liammongkolkul S, Svasti J. Keeratichamroen S, et al. Among authors: suwannarat p. J Inherit Metab Dis. 2008 Dec;31 Suppl 2:S303-11. doi: 10.1007/s10545-008-0876-z. Epub 2008 May 20. J Inherit Metab Dis. 2008. PMID: 18500569
39 results