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Ida V. D. Schwartz ; Ana C. S. Puga ; Taiane A. Vieira ; Maria Verónica R. Munoz ; Roberto Giugliani ; MPS II Study Group ;Jornal de Pediatria 2006, 82 4

Autor: Louise L. C. Pinto

Fuente: http://www.redalyc.org/articulo.oa?id=399738113008


Introducción



Jornal de Pediatria ISSN: 0021-7557 assessoria@jped.com.br Sociedade Brasileira de Pediatria Brasil Pinto, Louise L.
C.; Schwartz, Ida V.
D.; Puga, Ana C.
S.; Vieira, Taiane A.; Munoz, Maria Verónica R.; Giugliani, Roberto; MPS II Study Group Prospective study of 11 Brazilian patients with mucopolysaccharidosis II Jornal de Pediatria, vol.
82, núm.
4, julio-agosto, 2006, pp.
273-278 Sociedade Brasileira de Pediatria Porto Alegre, Brasil Available in: http:--www.redalyc.org-articulo.oa?id=399738113008 How to cite Complete issue More information about this article Journals homepage in redalyc.org Scientific Information System Network of Scientific Journals from Latin America, the Caribbean, Spain and Portugal Non-profit academic project, developed under the open access initiative 0021-7557-06-82-04-273 Jornal de Pediatria Copyright © 2006 by Sociedade Brasileira de Pediatria doi:10.2223-JPED.1512 ORIGINAL ARTICLE Prospective study of 11 Brazilian patients with mucopolysaccharidosis II Louise L.
C.
Pinto,1 Ida V.
D.
Schwartz,1 Ana C.
S.
Puga,2 Taiane A.
Vieira,2 Maria Verônica R.
Munoz, 2 Roberto Giugliani1; MPS II Study Group3 Abstract Objective: To assess the progression of mucopolysaccharidosis II in 11 Brazilian patients over a 12-month period. Methods: Eleven Brazilian patients with mucopolysaccharidosis II were prospectively studied at the Division of Medical Genetics of Hospital de Clínicas de Porto Alegre.
The initial assessment and the assessment at 12 months included: anamnesis, physical examination, abdominal nuclear magnetic resonance, echocardiogram, 6-minute walk test, audiometry, serum biochemical tests and urinary glycosaminoglycan concentration. Results: The major findings after comparing the assessments were: 1) two patients had growth retardation; 2) two patients showed negative weight change; 3) one patient went from obese to overweight; 4) three patients revealed left ventricle hypertrophy; of these, two increased the number of card...





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