Stephanie Pucci Pegler

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Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion Marcília S. Grassi1, Cristina M. A. Jacob1, Leslie D. Kulikowski3, Antonio C. Pastorino1, Roberta L. Dutra3, Nana Miura2, Marcelo B. Jatene2, Stephanie P. Pegler1, Chong A. Kim1, Magda Carneiro-Sampaio1 Instituto da Criança – HC-FMUSP1; Instituto do Coração – HC-FMUSP2;(More)
Menkes disease is a congenital disorder caused by changes in copper metabolism derived from mutations in the ATP7A gene. It is characterized by physical and neurological alterations. In the neonatal period, these alterations can be nonspecific, which makes early diagnosis a challenge. Diagnosis can be suspected when there are low levels of ceruloplasmin and(More)
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