Objective To compare outcomes of infants and children who underwent lung transplantation
for genetic disorders of surfactant metabolism (SFTPB, SFTPC, ABCA3, and NKX2-1) over 2 …

OBJECTIVE: To determine if the outcomes of lung transplantation for infants with surfactant
protein-B (SP-B) deficiency are unique. STUDY DESIGN: From a prospective analysis to …

Objective To review the pathophysiology, evaluation, management, and outcomes of
children with inherited disorders of surfactant metabolism due to mutations in the genes …

Respiratory distress is one of the most common clinical presentations in newborns requiring
admission to a Neonatal Intensive Care Unit (NICU). Many of these infants develop …

OBJECTIVE: To characterize inheritance of homozygous, rare, recessive loss-of-function
mutations in surfactant protein-B (SFTPB) or ATP binding cassette, subfamily A, member 3 …

Genetic disorders of surfactant dysfunction are a rare cause of chronic, progressive or
refractory respiratory failure in term and preterm infants. This review explores genetic …

Objective: To evaluate lung transplantation for treatment of surfactant protein B (SP-B)
deficiency. Study design: We compared surfactant composition and function from …

Inherited disorders of surfactant metabolism are rare diseases that provide unique
opportunities for understanding the mechanisms of surfactant function and metabolism …

Objectives To present the UK experience in genetic diagnoses of surfactant protein
dysfunction disorders and develop a referral algorithm for neonates and children with …

Lung transplantation (LTx) is a treatment option for infants and children with untreatable and
otherwise fatal pulmonary diseases. To date, over 1,800 lung transplants have been …