Variable clinical outcome of ABCA3 deficiency in two siblings
Identifieur interne : 001143 ( Main/Exploration ); précédent : 001142; suivant : 001144Variable clinical outcome of ABCA3 deficiency in two siblings
Auteurs : Surendran Thavagnanam [Canada, Malaisie] ; Ernest Cutz [Canada] ; David Manson [Canada] ; Lawrence M. Nogee [Canada, États-Unis] ; Sharon D. Dell [Canada]Source :
- Pediatric Pulmonology [ 8755-6863 ] ; 2013-10.
English descriptors
- Teeft :
- Abca3, Abca3 mutations, Abca3 sequence variants, Abnormal lamellar bodies, Aec2, Alveolar type, Biol, Biol chem, Case report, Cassette, Chem, Clinical outcome, Clinical outcomes, Clinical symptoms, Electron microscopy, Eudowood foundation, Exome variant server, Fatal surfactant, Genetic testing, Ground glass opacities, Lamellar, Lamellar body, Lipid transporter, Lung biopsy, Lung disease, Lung function, Macrolide antibiotics, Mutation, National institutes, Nogee, Normal lamellar bodies, Pediatr pulmonol, Pediatric, Pediatric pulmonology, Percentile, Protein substitution, Pulmonary function, Pulmonary surfactant, Pulmonology, Respir crit care, Respiratory distress, Respiratory medicine, Respiratory symptoms, Retrospective review, Sequence variants, Sibling, Sick children, Surfactant, Transporter, Variant, Wiley periodicals.
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. Pediatr Pulmonol. 2013; 48:1035–1038. © 2013 Wiley Periodicals, Inc.
Url:
DOI: 10.1002/ppul.22698
Affiliations:
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Dell</name><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name><name sortKey="Dell, Sharon D" sort="Dell, Sharon D" uniqKey="Dell S" first="Sharon D." last="Dell">Sharon D. Dell</name><name sortKey="Manson, David" sort="Manson, David" uniqKey="Manson D" first="David" last="Manson">David Manson</name><name sortKey="Manson, David" sort="Manson, David" uniqKey="Manson D" first="David" last="Manson">David Manson</name><name sortKey="Nogee, Lawrence M" sort="Nogee, Lawrence M" uniqKey="Nogee L" first="Lawrence M." last="Nogee">Lawrence M. Nogee</name><name sortKey="Thavagnanam, Surendran" sort="Thavagnanam, Surendran" uniqKey="Thavagnanam S" first="Surendran" last="Thavagnanam">Surendran Thavagnanam</name></country><country name="Malaisie"><noRegion><name sortKey="Thavagnanam, Surendran" sort="Thavagnanam, Surendran" uniqKey="Thavagnanam S" first="Surendran" last="Thavagnanam">Surendran Thavagnanam</name></noRegion></country><country name="États-Unis"><region name="Maryland"><name sortKey="Nogee, Lawrence M" sort="Nogee, Lawrence M" uniqKey="Nogee L" first="Lawrence M." last="Nogee">Lawrence M. Nogee</name></region></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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