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2. 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; 36(3):270-5. PubMed ID: 25687216 [TBL] [Abstract][Full Text] [Related]
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6. Crucial microscopic features leading to diagnosis of cobalamin C deficiency in a new-born. Lesesve JF; Latger-Cannard V Br J Haematol; 2013 Jun; 161(5):608. PubMed ID: 23621747 [No Abstract] [Full Text] [Related]
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10. 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 [TBL] [Abstract][Full Text] [Related]
11. 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 [TBL] [Abstract][Full Text] [Related]
12. Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening. Almannai M; Marom R; Divin K; Scaglia F; Sutton VR; Craigen WJ; Lee B; Burrage LC; Graham BH Mol Genet Metab; 2017 Sep; 122(1-2):60-66. PubMed ID: 28693988 [TBL] [Abstract][Full Text] [Related]
13. 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 [TBL] [Abstract][Full Text] [Related]
14. Mutation spectrum of MMACHC in Chinese pediatric patients with cobalamin C disease: A case series and literature review. Wang C; Li D; Cai F; Zhang X; Xu X; Liu X; Zhang C; Wang D; Liu X; Lin S; Zhang Y; Shu J Eur J Med Genet; 2019 Oct; 62(10):103713. PubMed ID: 31279840 [TBL] [Abstract][Full Text] [Related]
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18. Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). Richard E; Jorge-Finnigan A; Garcia-Villoria J; Merinero B; Desviat LR; Gort L; Briones P; Leal F; Pérez-Cerdá C; Ribes A; Ugarte M; Pérez B; Hum Mutat; 2009 Nov; 30(11):1558-66. PubMed ID: 19760748 [TBL] [Abstract][Full Text] [Related]
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