%0 Journal Article 
%T Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: A case report
%D 2016
%@ 1752-1947
%U http://hdl.handle.net/10906/81642
%X Pulmonary surfactant is a complex mixture of lipids and proteins. Mutations in surfactant protein-C, surfactant protein-D, and adenosine triphosphate-binding cassette subfamily A member 3 have been related to surfactant dysfunction and neonatal respiratory failure in full-term babies. Adenosine triphosphate-binding cassette subfamily A member 3 facilitates the transfer of lipids to lamellar bodies. We report the case of patient with a homozygous intronic ABCA3 mutation. Case presentation: We describe a newborn full-term Colombian baby boy who was the son of non-consanguineous parents of mixed race ancestry (Mestizo), who was delivered with severe respiratory depression. Invasive treatment was unsuccessful and diagnosis was uncertain
%K Medical sciences
%K Ciencias  socio biomédicas
%K Birth defect
%K Enfermedad respiratoria
%K Insuficiencia respiratoria
%K Recién nacido
%K Genética en niños
%~ GOEDOC, SUB GOETTINGEN