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Journal Abstract Search

101 related items for PubMed ID: 14662594

  • 1. Rod photoreceptor responses in children with Smith-Lemli-Opitz syndrome.
    Elias ER, Hansen RM, Irons M, Quinn NB, Fulton AB.
    Arch Ophthalmol; 2003 Dec; 121(12):1738-43. PubMed ID: 14662594
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  • 2. Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features.
    Fliesler SJ, Peachey NS, Richards MJ, Nagel BA, Vaughan DK.
    Arch Ophthalmol; 2004 Aug; 122(8):1190-200. PubMed ID: 15302661
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  • 3. Cone ERG responses in patients with Smith-Lemli-Opitz Syndrome (SLOS).
    Garry D, Hansen RM, Moskowitz A, Elias ER, Irons M, Fulton AB.
    Doc Ophthalmol; 2010 Oct; 121(2):85-91. PubMed ID: 20440536
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  • 4. Rod photoreceptor function in children with mitochondrial disorders.
    Cooper LL, Hansen RM, Darras BT, Korson M, Dougherty FE, Shoffner JM, Fulton AB.
    Arch Ophthalmol; 2002 Aug; 120(8):1055-62. PubMed ID: 12149059
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  • 13. Disorders of sterol synthesis: beyond Smith-Lemli-Opitz syndrome.
    Herman GE, Kratz L.
    Am J Med Genet C Semin Med Genet; 2012 Nov 15; 160C(4):301-21. PubMed ID: 23042573
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  • 14. [Smith-Lemli-Opitz syndrome and hypothyroidism: the first Venezuelan case].
    Lima-Martínez MM, Zerpa J, Gil V.
    Invest Clin; 2014 Sep 15; 55(3):260-5. PubMed ID: 25272525
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  • 16. Treatment of Smith-Lemli-Opitz syndrome: results of a multicenter trial.
    Irons M, Elias ER, Abuelo D, Bull MJ, Greene CL, Johnson VP, Keppen L, Schanen C, Tint GS, Salen G.
    Am J Med Genet; 1997 Jan 31; 68(3):311-4. PubMed ID: 9024565
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  • 17. Feeding impairments associated with plasma sterols in Smith-Lemli-Opitz syndrome.
    Merkens MJ, Sinden NL, Brown CD, Merkens LS, Roullet JB, Nguyen T, Steiner RD.
    J Pediatr; 2014 Oct 31; 165(4):836-41.e1. PubMed ID: 25039049
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  • 18. Inborn errors of cholesterol biosynthesis.
    Kelley RI.
    Adv Pediatr; 2000 Oct 31; 47():1-53. PubMed ID: 10959439
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