Literature DB >> 23818309

Variable clinical outcome of ABCA3 deficiency in two siblings.

Surendran Thavagnanam1, Ernest Cutz, David Manson, Lawrence M Nogee, Sharon D Dell.   

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.
© 2013 Wiley Periodicals, Inc.

Entities:  

Keywords:  ABCA3; pediatric; respiratory

Mesh：

Substances：

Year:  2013        PMID： 23818309     DOI： 10.1002/ppul.22698

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


  5 in total

1.  Respiratory failure in a term infant with cis and trans mutations in ABCA3.

Authors:  T Jackson; D J Wegner; F V White; A Hamvas; F S Cole; J A Wambach
Journal:  J Perinatol       Date:  2015-03       Impact factor: 2.521

2.  Biologic characterization of ABCA3 variants in lung tissue from infants and children with ABCA3 deficiency.

Authors:  Kathryn K Xu; Daniel J Wegner; Lucille C Geurts; Hillary B Heins; Ping Yang; Aaron Hamvas; Pirooz Eghtesady; Stuart C Sweet; F Sessions Cole; Jennifer A Wambach
Journal:  Pediatr Pulmonol       Date:  2022-03-17

3.  Genotype-phenotype correlations for infants and children with ABCA3 deficiency.

Authors:  Jennifer A Wambach; Alicia M Casey; Martha P Fishman; Daniel J Wegner; Susan E Wert; F Sessions Cole; Aaron Hamvas; Lawrence M Nogee
Journal:  Am J Respir Crit Care Med       Date:  2014-06-15       Impact factor: 21.405

4.  Hydroxychloroquine, a successful treatment for lung disease in ABCA3 deficiency gene mutation: a case report.

Authors:  Waleed Shaaban; Majeda Hammoud; Ali Abdulraheem; Yasser Yahia Elsayed; Nawal Alkazemi
Journal:  J Med Case Rep       Date:  2021-02-02

5.  Fatal respiratory disease due to a homozygous intronic ABCA3 mutation: a case report.

Authors:  Harry Pachajoa; Felipe Ruiz-Botero; Luis Enrique Meza-Escobar; Vania Alexandra Villota-Delgado; Adriana Ballesteros; Ivan Padilla; Diana Duarte
Journal:  J Med Case Rep       Date:  2016-09-26
  5 in total

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