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1993 1
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2013 2
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Page 1
Did you mean irene y chong[Author] (11 results)?
Congenital disorders of glycosylation.
Chang IJ, He M, Lam CT. Chang IJ, et al. Ann Transl Med. 2018 Dec;6(24):477. doi: 10.21037/atm.2018.10.45. Ann Transl Med. 2018. PMID: 30740408 Free PMC article. Review.
Association of Variants in the SPTLC1 Gene With Juvenile Amyotrophic Lateral Sclerosis.
Johnson JO, Chia R, Miller DE, Li R, Kumaran R, Abramzon Y, Alahmady N, Renton AE, Topp SD, Gibbs JR, Cookson MR, Sabir MS, Dalgard CL, Troakes C, Jones AR, Shatunov A, Iacoangeli A, Al Khleifat A, Ticozzi N, Silani V, Gellera C, Blair IP, Dobson-Stone C, Kwok JB, Bonkowski ES, Palvadeau R, Tienari PJ, Morrison KE, Shaw PJ, Al-Chalabi A, Brown RH Jr, Calvo A, Mora G, Al-Saif H, Gotkine M, Leigh F, Chang IJ, Perlman SJ, Glass I, Scott AI, Shaw CE, Basak AN, Landers JE, Chiò A, Crawford TO, Smith BN, Traynor BJ; FALS Sequencing Consortium; American Genome Center; International ALS Genomics Consortium; and ITALSGEN Consortium; Smith BN, Ticozzi N, Fallini C, Gkazi AS, Topp SD, Scotter EL, Kenna KP, Keagle P, Tiloca C, Vance C, Troakes C, Colombrita C, King A, Pensato V, Castellotti B, Baas F, Ten Asbroek ALMA, McKenna-Yasek D, McLaughlin RL, Polak M, Asress S, Esteban-Pérez J, Stevic Z, D'Alfonso S, Mazzini L, Comi GP, Del Bo R, Ceroni M, Gagliardi S, Querin G, Bertolin C, van Rheenen W, Rademakers R, van Blitterswijk M, Lauria G, Duga S, Corti S, Cereda C, Corrado L, Sorarù G, Williams KL, Nicholson GA, Blair IP, Leblond-Manry C, Rouleau GA, Hardiman O, Morrison KE, Veldink J… See abstract for full author list ➔ Johnson JO, et al. Among authors: chang ij. JAMA Neurol. 2021 Oct 1;78(10):1236-1248. doi: 10.1001/jamaneurol.2021.2598. JAMA Neurol. 2021. PMID: 34459874 Free PMC article.
The genetics of Wilson disease.
Chang IJ, Hahn SH. Chang IJ, et al. Handb Clin Neurol. 2017;142:19-34. doi: 10.1016/B978-0-444-63625-6.00003-3. Handb Clin Neurol. 2017. PMID: 28433102 Free PMC article. Review.
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency.
Merritt JL 2nd, Chang IJ. Merritt JL 2nd, et al. Among authors: chang ij. 2000 Apr 20 [updated 2019 Jun 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2000 Apr 20 [updated 2019 Jun 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301597 Free Books & Documents. Review.
Novel pregnancy-triggered episodes of CAPOS syndrome.
Chang IJ, Adam MP, Jayadev S, Bird TD, Natarajan N, Glass IA. Chang IJ, et al. Am J Med Genet A. 2018 Jan;176(1):235-240. doi: 10.1002/ajmg.a.38502. Epub 2017 Nov 1. Am J Med Genet A. 2018. PMID: 29090527 Free PMC article. Review.
Elevated oxysterol and N-palmitoyl-O-phosphocholineserine levels in congenital disorders of glycosylation.
Dang Do AN, Chang IJ, Jiang X, Wolfe LA, Ng BG, Lam C, Schnur RE, Allis K, Hansikova H, Ondruskova N, O'Connor SD, Sanchez-Valle A, Vollo A, Wang RY, Wolfenson Z, Perreault J, Ory DS, Freeze HH, Merritt JL, Porter FD. Dang Do AN, et al. Among authors: chang ij. J Inherit Metab Dis. 2023 Mar;46(2):326-334. doi: 10.1002/jimd.12595. Epub 2023 Feb 3. J Inherit Metab Dis. 2023. PMID: 36719165 Free PMC article.
Factor VIII and vWF deficiency in STT3A-CDG.
Chang IJ, Byers HM, Ng BG, Merritt JL 2nd, Gilmore R, Shrimal S, Wei W, Zhang Y, Blair AB, Freeze HH, Zhang B, Lam C. Chang IJ, et al. J Inherit Metab Dis. 2019 Mar;42(2):325-332. doi: 10.1002/jimd.12021. Epub 2019 Jan 30. J Inherit Metab Dis. 2019. PMID: 30701557 Free PMC article.
Pharmacokinetics of oral l-serine supplementation in a single patient.
Miller DE, Ferreira CR, Scott AI, Chang IJ. Miller DE, et al. Among authors: chang ij. Mol Genet Metab Rep. 2020 May 22;24:100607. doi: 10.1016/j.ymgmr.2020.100607. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489882 Free PMC article.
Immune dysfunction in MGAT2-CDG: A clinical report and review of the literature.
Poskanzer SA, Schultz MJ, Turgeon CT, Vidal-Folch N, Liedtke K, Oglesbee D, Gavrilov DK, Tortorelli S, Matern D, Rinaldo P, Bennett JT, Thies JM, Chang IJ, Beck AE, Raymond K, Allenspach EJ, Lam C. Poskanzer SA, et al. Among authors: chang ij. Am J Med Genet A. 2021 Jan;185(1):213-218. doi: 10.1002/ajmg.a.61914. Epub 2020 Oct 12. Am J Med Genet A. 2021. PMID: 33044030 Free PMC article.
25 results