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MEDISAN

versión On-line ISSN 1029-3019

Resumen

MARTINEZ YERO, Yannelis  y  ECHAVARRIA ESTENOZ, Dulce María. An extraordinary deceased child due to the Hurler-Scheie syndrome. MEDISAN [online]. 2016, vol.20, n.3, pp.411-420. ISSN 1029-3019.

The personal experience of a mother that faced the Hurler-Scheie syndrome, strange disease suffered from his son already deceased, is exposed with the purpose to demonstrate that the observation of the changes occurring in a child, is vital for his development. The care toward a young child with this disorder is indispensable to achieve a childhood with life quality; therefore, the Cuban health system should continue designing strategies that guarantee an early diagnosis and the possibility of opportune therapeutic alternatives as the enzymatic substitution therapy

Palabras clave : mucopolysaccharidosis; enzymatic failure; congenital metabolic disease; glycosaminoglycan; hepatomegaly; sleeping apnea; joint stiffness; enzymatic substitution therapy.

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