Variable clinical outcome of ABCA3 deficiency in two siblings

Surendran Thavagnanam, Ernest Cutz, David Manson, Lawrence Nogee, Sharon D. Dell

Research output: Contribution to journalArticle

Abstract

This case report describes an unusual outcome of ABCA3 deficiency with resolution of symptoms, normalization of chest imaging and lung function in a 9-year-old child whose sibling died of the same disease in infancy.

Original languageEnglish (US)
Pages (from-to)1035-1038
Number of pages4
JournalPediatric Pulmonology
Volume48
Issue number10
DOIs
StatePublished - Oct 2013

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Keywords

  • ABCA3
  • pediatric
  • respiratory

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

Cite this

Variable clinical outcome of ABCA3 deficiency in two siblings. / Thavagnanam, Surendran; Cutz, Ernest; Manson, David; Nogee, Lawrence; Dell, Sharon D.

In: Pediatric Pulmonology, Vol. 48, No. 10, 10.2013, p. 1035-1038.

Research output: Contribution to journalArticle

Thavagnanam, S, Cutz, E, Manson, D, Nogee, L & Dell, SD 2013, 'Variable clinical outcome of ABCA3 deficiency in two siblings', Pediatric Pulmonology, vol. 48, no. 10, pp. 1035-1038. https://doi.org/10.1002/ppul.22698
Thavagnanam, Surendran ; Cutz, Ernest ; Manson, David ; Nogee, Lawrence ; Dell, Sharon D. / Variable clinical outcome of ABCA3 deficiency in two siblings. In: Pediatric Pulmonology. 2013 ; Vol. 48, No. 10. pp. 1035-1038.
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