Surfactant protein B deficiency: antenatal diagnosis and prospective treatment with surfactant replacement

A Hamvas, FS Cole, DE deMello, M Moxley… - The Journal of …, 1994 - Elsevier
An infant with a family history of congenital alveolar proteinosis associated with surfactant
protein B (SP-B) deficiency was identified when SP-B was not detected in amniotic fluid …

Partial deficiency of surfactant protein B in an infant with chronic lung disease

PL Ballard, LM Nogee, MF Beers, RA Ballard… - …, 1995 - publications.aap.org
Objective. To evaluate components of pulmonary surfactant and identify mutations in the
surfactant protein B gene (SP-B) of a term infant with severe respiratory distress and chronic …

Transient surfactant protein B deficiency in a term infant with severe respiratory failure

JM Klein, MW Thompson, JM Snyder, TN George… - The Journal of …, 1998 - Elsevier
A 38-day-old male infant with persistent pulmonary hypertension and respiratory failure
since birth was found to have a complete absence of surfactant protein B (SP-B) along with …

Surfactant protein B deficiency: clinical, histological and molecular evaluation

GD Williams, J Christodoulou, J Stack… - … of paediatrics and …, 1999 - Wiley Online Library
Congenital alveolar proteinosis due to surfactant protein B deficiency is an inherited disease
which results in severe respiratory failure in term infants soon after birth. The …

A mutation in the surfactant protein B gene responsible for fatal neonatal respiratory disease in multiple kindreds.

LM Nogee, G Garnier, HC Dietz… - The Journal of …, 1994 - Am Soc Clin Investig
To determine the molecular defect accounting for the deficiency of pulmonary surfactant
protein B (SP-B) in full-term neonates who died from respiratory failure associated with …

Congenital alveolar proteinosis caused by a novel mutation of the surfactant protein B gene and misalignment of lung vessels in consanguineous kindred infants

M Wallot, C Wagenvoort, D DeMello, KM Müller… - European journal of …, 1999 - Springer
Congenital alveolar proteinosis and misalignment of lung vessels are rare disorders. We
report on five infants of consanguineous kindred. All infants were delivered at term after …

Ultrastructure of lung in surfactant protein B deficiency.

DE DeMello, S Heyman, DS Phelps… - American journal of …, 1994 - atsjournals.org
Congenital alveolar proteinosis (CAP), a cause of respiratory failure in fill-term newborns,
often leads to death in infancy despite medical therapy. We recently described an inherited …

Aberrant processing of surfactant protein C in hereditary SP-B deficiency

DK Vorbroker, SA Profitt, LM Nogee… - American Journal of …, 1995 - journals.physiology.org
Hereditary surfactant protein B (SP-B) deficiency causes lethal neonatal respiratory disease
associated with abnormalities in pulmonary surfactant proteins and lipids. SP-C, a 4-kDa …

Surfactant protein B deficiency in infants with respiratory failure

MA Wilder - The Journal of perinatal & neonatal nursing, 2004 - journals.lww.com
Abstract Surfactant Protein B (SP-B) deficiency has been recently identified as an
uncommon, autosomal recessive lung disorder in term infants. This inability to produce SP-B …

Hereditary surfactant protein B deficiency resulting from a novel mutation

M Somaschini, S Wert, G Mangili, A Colombo… - Intensive care …, 2000 - Springer
Hereditary surfactant protein B (SP-B) deficiency is an autosomal recessive disease in which
affected infants are unable to produce normally functional surfactant, resulting in neonatal …