These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


PUBMED FOR HANDHELDS

Journal Abstract Search


326 related items for PubMed ID: 28481040

  • 1. Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients.
    Bacci GM, Donati MA, Pasquini E, Munier F, Cavicchi C, Morrone A, Sodi A, Murro V, Garcia Segarra N, Defilippi C, Bussolin L, Caputo R.
    Acta Ophthalmol; 2017 Dec; 95(8):e776-e782. PubMed ID: 28481040
    [Abstract] [Full Text] [Related]

  • 2. Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss.
    Bonafede L, Ficicioglu CH, Serrano L, Han G, Morgan JI, Mills MD, Forbes BJ, Davidson SL, Binenbaum G, Kaplan PB, Nichols CW, Verloo P, Leroy BP, Maguire AM, Aleman TS.
    Invest Ophthalmol Vis Sci; 2015 Dec; 56(13):7875-87. PubMed ID: 26658511
    [Abstract] [Full Text] [Related]

  • 3. Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications.
    Aleman TS, Brodie F, Garvin C, Gewaily DY, Ficicioglu CH, Mills MD, Forbes BJ, Maguire AM, Davidson SL.
    Ophthalmic Genet; 2015 Dec; 36(4):339-48. PubMed ID: 24512365
    [Abstract] [Full Text] [Related]

  • 4. Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria.
    Fuchs LR, Robert M, Ingster-Moati I, Couette L, Dufier JL, de Lonlay P, Brodie SE.
    J AAPOS; 2012 Aug; 16(4):370-5. PubMed ID: 22929452
    [Abstract] [Full Text] [Related]

  • 5. Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gerth C, Morel CF, Feigenbaum A, Levin AV.
    J AAPOS; 2008 Dec; 12(6):591-6. PubMed ID: 18848477
    [Abstract] [Full Text] [Related]

  • 6. Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy.
    Collison FT, Xie YA, Gambin T, Jhangiani S, Muzny D, Gibbs R, Lupski JR, Fishman GA, Allikmets R.
    Ophthalmic Genet; 2015 Dec; 36(3):270-5. PubMed ID: 25687216
    [Abstract] [Full Text] [Related]

  • 7. Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type.
    Gizicki R, Robert MC, Gómez-López L, Orquin J, Decarie JC, Mitchell GA, Roy MS, Ospina LH.
    Ophthalmology; 2014 Jan; 121(1):381-386. PubMed ID: 24126030
    [Abstract] [Full Text] [Related]

  • 8. Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia.
    Ku CA, Ng JK, Karr DJ, Reznick L, Harding CO, Weleber RG, Pennesi ME.
    Ophthalmic Genet; 2016 Dec; 37(4):404-414. PubMed ID: 26979128
    [Abstract] [Full Text] [Related]

  • 9. Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency.
    Brooks BP, Thompson AH, Sloan JL, Manoli I, Carrillo-Carrasco N, Zein WM, Venditti CP.
    Ophthalmology; 2016 Mar; 123(3):571-82. PubMed ID: 26825575
    [Abstract] [Full Text] [Related]

  • 10. Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC.
    Zong Y, Liu N, Zhao Z, Kong X.
    BMC Med Genet; 2015 Jul 07; 16():48. PubMed ID: 26149271
    [Abstract] [Full Text] [Related]

  • 11. Autosomal recessive bestrophinopathy: differential diagnosis and treatment options.
    Boon CJ, van den Born LI, Visser L, Keunen JE, Bergen AA, Booij JC, Riemslag FC, Florijn RJ, van Schooneveld MJ.
    Ophthalmology; 2013 Apr 07; 120(4):809-20. PubMed ID: 23290749
    [Abstract] [Full Text] [Related]

  • 12. Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders.
    Gaillard MC, Matthieu JM, Borruat FX.
    Klin Monbl Augenheilkd; 2008 May 07; 225(5):491-4. PubMed ID: 18454408
    [Abstract] [Full Text] [Related]

  • 13. Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations.
    Morel CF, Lerner-Ellis JP, Rosenblatt DS.
    Mol Genet Metab; 2006 Aug 07; 88(4):315-21. PubMed ID: 16714133
    [Abstract] [Full Text] [Related]

  • 14. Benign Yellow Dot Maculopathy: A New Macular Phenotype.
    Dev Borman A, Rachitskaya A, Suzani M, Sisk RA, Ahmed ZM, Holder GE, Cipriani V, Arno G, Webster AR, Hufnagel RB, Berrocal A, Moore AT.
    Ophthalmology; 2017 Jul 07; 124(7):1004-1013. PubMed ID: 28366503
    [Abstract] [Full Text] [Related]

  • 15. Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#.
    Wang J, Li E, Wang L, Wang Z, Yang S, Zhou Q, Chen Q.
    Int J Clin Exp Pathol; 2015 Jul 07; 8(8):9337-41. PubMed ID: 26464686
    [Abstract] [Full Text] [Related]

  • 16. Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene.
    Chang JT, Chen YY, Liu TT, Liu MY, Chiu PC.
    Pediatr Neonatol; 2011 Aug 07; 52(4):223-6. PubMed ID: 21835369
    [Abstract] [Full Text] [Related]

  • 17. Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome.
    Aleman TS, Ventura CV, Cavalcanti MM, Serrano LW, Traband A, Nti AA, Gois AL, Bravo-Filho V, Martins TT, Nichols CW, Maia M, Belfort R.
    JAMA Ophthalmol; 2017 Oct 01; 135(10):1069-1076. PubMed ID: 28880978
    [Abstract] [Full Text] [Related]

  • 18. Optical Coherence Tomography Angiography and En Face Optical Coherence Tomography Features of Paracentral Acute Middle Maculopathy.
    Sridhar J, Shahlaee A, Rahimy E, Hong BK, Khan MA, Maguire JI, Dunn JP, Mehta S, Ho AC.
    Am J Ophthalmol; 2015 Dec 01; 160(6):1259-1268.e2. PubMed ID: 26386158
    [Abstract] [Full Text] [Related]

  • 19. Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type).
    Heil SG, Hogeveen M, Kluijtmans LA, van Dijken PJ, van de Berg GB, Blom HJ, Morava E.
    J Inherit Metab Dis; 2007 Oct 01; 30(5):811. PubMed ID: 17768669
    [Abstract] [Full Text] [Related]

  • 20. Paracentral acute middle maculopathy in nonischemic central retinal vein occlusion.
    Rahimy E, Sarraf D, Dollin ML, Pitcher JD, Ho AC.
    Am J Ophthalmol; 2014 Aug 01; 158(2):372-380.e1. PubMed ID: 24794089
    [Abstract] [Full Text] [Related]


    Page: [Next] [New Search]
    of 17.