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RPE65-Related Leber Congenital Amaurosis / Early-Onset Severe Retinal Dystrophy.
2019 Nov 14. 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.
2019 Nov 14. 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: 31725251
Free Books & Documents.
Review.
Characterization of the Spectrum of Ophthalmic Changes in Patients With Alagille Syndrome.
da Palma MM, Igelman AD, Ku C, Burr A, You JY, Place EM, Wang NK, Oh JK, Branham KE, Zhang X, Ahn J, Gorin MB, Lam BL, Ronquillo CC, Bernstein PS, Nagiel A, Huckfeldt R, Cabrera MT, Kelly JP, Bakall B, Iannaccone A, Hufnagel RB, Zein WM, Koenekoop RK, Birch DG, Yang P, Fahim AT, Pennesi ME.
da Palma MM, et al. Among authors: burr a.
Invest Ophthalmol Vis Sci. 2021 Jun 1;62(7):27. doi: 10.1167/iovs.62.7.27.
Invest Ophthalmol Vis Sci. 2021.
PMID: 34185059
Free PMC article.
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Variable expressivity of BEST1-associated autosomal dominant vitreoretinochoroidopathy (ADVIRC) in a three-generation pedigree.
da Palma MM, Vargas ME, Burr A, Chen R, Pennesi ME, Weleber RG, Yang P.
da Palma MM, et al. Among authors: burr a.
BMJ Open Ophthalmol. 2021 Oct 21;6(1):e000813. doi: 10.1136/bmjophth-2021-000813. eCollection 2021.
BMJ Open Ophthalmol. 2021.
PMID: 34746433
Free PMC article.
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Expanding the phenotypic and genotypic spectrum of patients with HGSNAT-related retinopathy.
da Palma MM, Marra M, Igelman AD, Ku CA, Burr A, Andersen K, Everett LA, Porto FBO, Sallum JMF, Yang P, Pennesi ME.
da Palma MM, et al. Among authors: burr a.
Ophthalmic Genet. 2024 Apr;45(2):167-174. doi: 10.1080/13816810.2023.2245035. Epub 2023 Aug 17.
Ophthalmic Genet. 2024.
PMID: 37592806
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A possible ocular biomarker for response to hyperornithinemia in gyrate atrophy: the effect of pyridoxine, lysine, and arginine-restricted diet in a patient with advanced disease.
da Palma MM, Ku C, Igelman AD, Burr A, Shevchenko Sutherland L, Koerner C, Valle D, Pennesi ME, Yang P.
da Palma MM, et al. Among authors: burr a.
Ophthalmic Genet. 2023 Apr;44(2):191-197. doi: 10.1080/13816810.2022.2098986. Epub 2022 Jul 20.
Ophthalmic Genet. 2023.
PMID: 35856163
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