Browsing by Author "Pinheiro, L"
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- Miofibromatose Infantil como caussa de dispneia do recém-nascidoPublication . Pereira, S; Abreu, L; Pinheiro, L; Rodrigues, B; Dias, L
- Novel ABCA3 mutations as a cause of respiratory distress in a term newbornPublication . Gonçalves, JP; Pinheiro, L; Costa, M; Silva, A; Gonçalves, A; Pereira, AWe report here the case of a term female newborn that developed severe respiratory distress soon after birth. She was found to be a compound heterozygote for both novel mutations in the ABCA3 gene. ABCA3 deficiency should be considered in mature babies who develop severe respiratory distress syndrome.