Navegação Ciências da Saúde por Assunto "22q13 deletion"

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A patient presenting a 22q13 deletion associated with an apparently balanced translocation t(16;22) : an ilustrative case in the investigation of patients with low ARSA activity

Artigalas, Osvaldo Alfonso Pinto; Paskulin, Giorgio Adriano; Riegel, Mariluce; Burin, Maira Graeff; Pereira, Maria Luiza Saraiva; Maluf, Sharbel Weidner; Kiss, Andréia; Schwartz, Ida Vanessa Doederlein (2012) [Artigo de periódico]

A 10-year-old speechless, mentally deficient male, with low arylsulfatase A (ARSA) activity, and presumably, methachromatic leukodystrophy, underwent genetic evaluation. As the clinical picture was not compatible with this ...