Piña-Aguilar RE, Vera-Loaiza A, Santillán-Hernández Y

Language: Spanish
References: 10
Page: 35-37
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REFERENCES

1. Téllez-Berrocal KC, Cortés-Gómez J. Síndrome de Dyggve-Melchior-Clausen, evolución de un caso y revisión de la literatura. Rev Mex Ortop Ped. 2010; 12(1): 53-58.

2. Warman ML, Cormier-Daire V, Hall C, Krakow D, Lachman R, LeMerrer M et al. Nosology and classification of genetic skeletal disorders: 2010 revision. Am J Med Genet A. 2011; 155A(5): 943-968.

3. Ehtesham N, Cantor RM, King LM, Reinker K, Powell BR, Shanske A, Unger S, Rimoin DL, Cohn DH. Evidence that Smith-McCort dysplasia and Dyggve-Melchior-Clausen dysplasia are allelic disorders that result from mutations in a gene on chromosome 18q12. Am J Hum Genet. 2002; 71(4): 947-951.

4. El Ghouzzi V, Dagoneau N, Kinning E, Thauvin-Robinet C, Chemaitilly W, Prost-Squarcioni C, Al-Gazali LI, Verloes A, Le Merrer M, Munnich A, Trembath RC, Cormier-Daire V. Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome. Hum Mol Genet. 2003; 12(3): 357-364.

5. Hendriksz CJ, Harmatz P, Beck M, Jones S, Wood T, Lachman R, Gravance CG, Orii T, Tomatsu S. Review of clinical presentation and diagnosis of mucopolysaccharidosis IVA. Mol Genet Metab. 2013; 110(1-2): 54-64.

6. Caciotti A, Garman SC, Rivera-Colón Y, Procopio E, Catarzi S, Ferri L et al. GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. Biochim Biophys Acta. 2011; 1812(7): 782-790.

7. Hendriksz CJ, Burton B, Fleming TR, Harmatz P, Hughes D, Jones SA et al. STRIVE Investigators, Slasor P, Lounsbury D, Dummer W. Efficacy and safety of enzyme replacement therapy with BMN 110 (elosulfase alfa) for Morquio A syndrome (mucopolysaccharidosis IVA): a phase 3 randomized placebo-controlled study. J Inherit Metab Dis. 2014. [Epub ahead of print].

8. Lachman RS, Burton BK, Clarke LA, Hoffinger S, Ikegawa S, Jin DK, Kano H et al. Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose. Skeletal Radiol. 2014; 43(3): 359-369.

9. Mendelsohn NJ, Wood T, Olson RA, Temme R, Hale S, Zhang H, Read L, White KK. Spondyloepiphyseal dysplasias and bilateral legg-calvé-perthes disease: diagnostic considerations for mucopolysaccharidoses. JIMD Rep. 2013; 11: 125-132.

10. University of California, Los Angeles. The International Skeletal Dysplasia Registry [Internet]. [acceso 23 de agosto de 2014]. Disponible en: http: //ortho.ucla.edu/body.cfm?id=279