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Delayed diagnosis of oculopharyngeal muscular dystrophy in Scotland.
Agarwal PK, Mansfield DC, Mechan D, Al-Shahi Salman R, Davenport RJ, Connor M, Metcalfe R, Petty R. Agarwal PK, et al. Among authors: mechan d. Br J Ophthalmol. 2012 Feb;96(2):281-3. doi: 10.1136/bjo.2010.200378. Epub 2011 May 20. Br J Ophthalmol. 2012. PMID: 21602480
Two novel recessive mutations in KRT14 identified in a cohort of 21 Spanish families with epidermolysis bullosa simplex.
García M, Santiago JL, Terrón A, Hernández-Martín A, Vicente A, Fortuny C, De Lucas R, López JC, Cuadrado-Corrales N, Holguín A, Illera N, Duarte B, Sánchez-Jimeno C, Llames S, García E, Ayuso C, Martínez-Santamaría L, Castiglia D, De Luca N, Torrelo A, Mechan D, Baty D, Zambruno G, Escámez MJ, Del Río M. García M, et al. Among authors: mechan d. Br J Dermatol. 2011 Sep;165(3):683-92. doi: 10.1111/j.1365-2133.2011.10428.x. Br J Dermatol. 2011. PMID: 21623745
Ketoacidosis: an unusual presentation of MELAS.
Strachan J, McLellan A, Kirkpatrick M, Hume R, Mechan D. Strachan J, et al. Among authors: mechan d. J Inherit Metab Dis. 2001 Jun;24(3):409-10. doi: 10.1023/a:1010573122748. J Inherit Metab Dis. 2001. PMID: 11486908 No abstract available.