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Journal Abstract Search

209 related items for PubMed ID: 16751040

  • 1. Ophthalmic manifestations of Danon disease.
    Prall FR, Drack A, Taylor M, Ku L, Olson JL, Gregory D, Mestroni L, Mandava N.
    Ophthalmology; 2006 Jun; 113(6):1010-3. PubMed ID: 16751040
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  • 6. Danon disease presenting with early onset of hypertrophic cardiomyopathy and peripheral pigmentary retinal dystrophy in a female with a de novo novel mosaic mutation in the LAMP2 gene.
    Meinert M, Englund E, Hedberg-Oldfors C, Oldfors A, Kornhall B, Lundin C, Wittström E.
    Ophthalmic Genet; 2019 Jun; 40(3):227-236. PubMed ID: 31264915
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  • 7. Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease.
    Echaniz-Laguna A, Mohr M, Epailly E, Nishino I, Charron P, Richard P, Guiraud-Chaumeil C, Tranchant C.
    Muscle Nerve; 2006 Mar; 33(3):393-7. PubMed ID: 16372318
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  • 10. Danon disease as a cause of concentric left ventricular hypertrophy in patients who underwent endomyocardial biopsy.
    Cheng Z, Cui Q, Tian Z, Xie H, Chen L, Fang L, Zhu K, Fang Q.
    Eur Heart J; 2012 Mar; 33(5):649-56. PubMed ID: 22108829
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  • 12. Danon disease: a novel Lamp-2 gene mutation in a family with four affected members.
    Tuñón T, Guerrero D, Urchaga A, Nishino I, Ayuso T, Matsuda Y, Caballero MC, Berjón J, Imizcoz MA.
    Neuromuscul Disord; 2008 Feb; 18(2):167-74. PubMed ID: 18061453
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  • 14. Long-Term Follow-Up of Peripheral Pigmentary Retinopathy in Asian Patients with Danon Disease.
    Yang JM, Lee BH, Nam GB, Kim JG, Lee JY.
    Genes (Basel); 2020 Nov 16; 11(11):. PubMed ID: 33207664
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  • 18. Danon disease: a focus on processing of the novel LAMP2 mutation and comments on the beneficial use of peripheral white blood cells in the diagnosis of LAMP2 deficiency.
    Majer F, Vlaskova H, Krol L, Kalina T, Kubanek M, Stolnaya L, Dvorakova L, Elleder M, Sikora J.
    Gene; 2012 May 01; 498(2):183-95. PubMed ID: 22365987
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  • 19. Retinal dystrophy associated with Danon disease and pathogenic mechanism through LAMP2-mutated retinal pigment epithelium.
    Fukushima M, Inoue T, Miyai T, Obata R.
    Eur J Ophthalmol; 2020 May 01; 30(3):570-578. PubMed ID: 30836785
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  • 20. [Congenital grouped pigmentation of the retina].
    State A.
    Oftalmologia; 2004 May 01; 48(2):30-2. PubMed ID: 15341096
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