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Patient-reported visual function outcomes agree with visual acuity and ophthalmologist-graded scoring of visual function among patients with long-chain 3-hydroxyacylcoA dehydrogenase deficiency (LCHADD).
Gregor AN, Black D, Wongchaisuwat N, Pennesi ME, Gillingham MB. Gregor AN, et al. Among authors: wongchaisuwat n. Mol Genet Metab Rep. 2024 Dec 2;41:101171. doi: 10.1016/j.ymgmr.2024.101171. eCollection 2024 Dec. Mol Genet Metab Rep. 2024. PMID: 39686973 Free PMC article.
Practice Patterns and Challenges in Managing Inherited Retinal Diseases Across Asia-Pacific: A Survey from the APIED Network.
Wong WM, Tham YC, Ayton LN, Britten-Jones AC, Edwards TL, Grigg J, Simunovic MP, Chen FK, Jin ZB, Shen RJ, Sui R, Yang L, Zhao C, Chen H, Li S, Ding X, Bhende M, Raman R, Sen P, Poornachandra B, Chia V, Manurung F, Sasongko MB, Ikeda H, Fujinami K, Woo SJ, Kim SJ, Bastion MC, Kamalden AT, Lott PP, Fong K, Shunmugam M, Lim A, Thapa R, Ibañez BMB, Koh A, Holder GE, Su X, Chan CM, Fenner BJ, Laude A, Ngo WK, Chen TC, Wang NK, Kang EY, Surawatsatien N, Pisuchpen P, Sujirakul T, Wongchaisuwat N, Apivatthakakul A, Kumaramanickavel G, Leroy B, Michaelides M, Pontikos N, Cheng CY, Pang CP, Chen LJ, Chan HW. Wong WM, et al. Among authors: wongchaisuwat n. Asia Pac J Ophthalmol (Phila). 2024 Sep-Oct;13(5):100098. doi: 10.1016/j.apjo.2024.100098. Epub 2024 Oct 2. Asia Pac J Ophthalmol (Phila). 2024. PMID: 39366638 Free article.
Early diagnosis and treatment by newborn screening (NBS) or family history is associated with improved visual outcomes for long-chain 3-hydroxyacylCoA dehydrogenase deficiency (LCHADD) chorioretinopathy.
Gillingham MB, Choi D, Gregor A, Wongchaisuwat N, Black D, Scanga HL, Nischal KK, Sahel JA, Arnold G, Vockley J, Harding CO, Pennesi ME. Gillingham MB, et al. Among authors: wongchaisuwat n. J Inherit Metab Dis. 2024 Jul;47(4):746-756. doi: 10.1002/jimd.12738. Epub 2024 Apr 16. J Inherit Metab Dis. 2024. PMID: 38623632
A proposal for an updated staging system for LCHADD retinopathy.
Wongchaisuwat N, Gillingham MB, Yang P, Everett L, Gregor A, Harding CO, Sahel JA, Nischal KK, Scanga HL, Black D, Vockley J, Arnold G, Pennesi ME. Wongchaisuwat N, et al. Ophthalmic Genet. 2024 Apr;45(2):140-146. doi: 10.1080/13816810.2024.2303682. Epub 2024 Jan 30. Ophthalmic Genet. 2024. PMID: 38288966 Free PMC article.
14 results