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Arch Pediatr ; 18(9): 979-82, 2011 Sep.
Artigo em Francês | MEDLINE | ID: mdl-21820286

RESUMO

Morquio disease is a rare genetic disorder characterized by the accumulation of keratan sulfate in tissues. We distinguish two forms according to the deficient enzyme: type A, with a poor prognosis, and type B. Its management is essentially symptomatic. Enzyme replacement therapy and gene therapy are still being evaluated. We report observations of three patients with Morquio disease type A in its moderate form. This article reports the latest facts in both Morquio disease diagnosis and treatment, emphasizing the minor forms usually presented by short stature that should bring out this disorder.


Assuntos
Nanismo/genética , Mucopolissacaridose IV/genética , Biomarcadores/urina , Criança , Consanguinidade , Feminino , Humanos , Sulfato de Queratano/urina , Masculino , Mucopolissacaridose IV/diagnóstico , Mucopolissacaridose IV/tratamento farmacológico , Mucopolissacaridose IV/enzimologia , Mucopolissacaridose IV/urina , Prognóstico , Fatores de Risco , Índice de Gravidade de Doença
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