Article
Neonatal respiratory insufficiency caused by an (homozygous) ABCA3-stop mutation: a systematic evaluation of therapeutic options.
Klinische Padiatrie - 1 Apr 2014
Winter J, Essmann S, Kidszun A, Aslanidis C, Griese M, Poplawska K, Bartsch M, Schmitz G, Mildenberger E
Abstract excerpt
BACKGROUND: Autosomal recessive ABCA3 (ATP-binding cassette protein A3) gene mutations have been associated with neonatal respiratory distress and pediatric interstitial lung disease. The clinical course of the disease depends on the underlying mutations. Therefore, knowledge of course, symptoms and treatment of the disease is important. PATIENT AND METHODS: A term newborn suffered from progressive respiratory...
Topics
- ATP-Binding Cassette Transporters
- Adrenal Cortex Hormones
- Chromosome Aberrations
- Codon, Terminator
- Fatal Outcome
- Female
- Genes, Recessive
- Homozygote
- Humans
- Hydroxychloroquine