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2014, Number 4

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Rev Cubana Hematol Inmunol Hemoter 2014; 30 (4)

Inherited disorders of collagen fiber

de León ONE, Castillo GD

Language: Spanish
References: 13
Page: 405-407
PDF size: 44.22 Kb.


Text Extraction

No abstract.


REFERENCES

  1. Campo Díaz MC, Hernández González JL, Gato Santiesteban Y, Valdés Sojo C, Fortún Prieto A. Evaluación de la hemostasia en niños con Síndrome de Ehlers- Danlos tipo III. Rev Cubana Hematol Inmunol Hemoter. (revista en la Internet) 2014 abr-jun (citado 2014 mayo 20); 30(2): Disponible en: http://www.revhematologia.sld.cu/index.php/hih/article/view/120/117

  2. Tofts LJ, Elliott EJ, Munns C, Pacey V, Sillence DO. The differential diagnosis of children with joint hypermobility: a review of the literature. Pediatr Rheumatol Online J. 2009 Jan;7:1. doi: 10.1186/1546-0096-7-1.

  3. Ritelli M, Dordoni Ch, Venturini M, Chiarelli N, Quinzani S, Traversa M, et al. Clinical and molecular characterization of 40 patients with classic Ehlers-Danlos syndrome: identification of 18 COL5A1 and 2 COL5A2 novel mutations. Orphanet J Rare Dis. 2013 Apr 12;8:58. doi: 10.1186/1750-1172-8-58.

  4. Castori M. Surgical recommendations in Ehlers-Danlos Syndrome(s) need patient classification: the example of Ehlers-Danlos syndrome hypermobility type (a.k.a. joint hypermobility syndrome). Dig Surg. 2012;29(6):453-5. doi: 10.1159/000346068.

  5. Smits-Engelsman B, Klerks M, Kirby A. Beighton score: a valid measure for generalized hypermobility in children. J Pediatr. 2011 Jan;158(1):119-23, 123.e1- 4. doi: 10.1016/j.jpeds.2010.07.021.

  6. Parapia LA, Jackson C. Ehlers-Danlos syndrome – a historical review. Br J Haematol. 2008 Apr;141(1):32-5. doi: 10.1111/j.1365-2141.2008.06994.x.

  7. Ross J, Grahame R. Joint hypermobility syndrome. BMJ. 2011 Jan 20;342:c7167. doi: 10.1136/bmj.c7167.

  8. Beighton P, De Paepe A, Steinmann B, Tsipouras P, Wenstrup RJ. Ehlers-Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers-Danlos National Foundation (USA) and Ehlers-Danlos Support Group (UK). Am J Med Genet. 1998 Apr 28;77(1):31-7.

  9. Jones KL. Smith´s recognizable Patterns of Human malformations. 6 th Ed Montreal: Elsevier, 2006.

  10. De Paepe A, Malfait F. The Ehlers-Danlos syndrome, a disorder with many faces. Clin Genet. 2012 Jul;82(1):1-11. doi: 10.1111/j.1399-0004.2012.01858.x.

  11. Tinkle BT, Bird HA, Grahame R, Lavallee M, Levy HP, Sillence D. The lack of clinical distinction between the hypermobility type of Ehlers-Danlos syndrome and the joint hypermobility syndrome (a.k.a. hypermobility syndrome). Am J Med Genet A. 2009 Nov;149A(11):2368-70. doi: 10.1002/ajmg.a.33070.

  12. Scheper MC, Engelbert RHH, Rameckers EAA, Verbunt J, Remvig L, Juul- Kristensen B. Children with generalised joint hypermobility and musculoskeletal complaints: state of the art on diagnostics, clinical characteristics and treatment. Biomed Res Int. 2013;2013:121054. doi: 10.1155/2013/121054.

  13. Byers PH, Murray ML. Heritable collagen disorders: the paradigm of the Ehlers- Danlos syndrome. J Invest Dermatol. 2012 Nov 15;132(E1):E6-11. doi: 10.1038/skinbio.2012.3.




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