کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
3837134 | 1597889 | 2006 | 8 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
ABCA3 Deficiency: Neonatal Respiratory Failure and Interstitial Lung Disease
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کلمات کلیدی
موضوعات مرتبط
علوم پزشکی و سلامت
پزشکی و دندانپزشکی
پزشکی و دندانپزشکی (عمومی)
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چکیده انگلیسی
ABCA3 is a member of the ATP Binding Cassette family of proteins, transporters that hydrolyze ATP in order to move substrates across biological membranes. Mutations in the gene encoding ABCA3 have been found in children with severe neonatal respiratory disease and older children with some forms of interstitial lung disease. This review summarizes current knowledge concerning clinical, genetic, and pathologic features of the lung disease associated with mutations in the ABCA3 gene, and also briefly reviews some other forms of childhood interstitial lung diseases that have their antecedents in the neonatal period and may also have a genetic basis.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Perinatology - Volume 30, Issue 6, December 2006, Pages 327–334
Journal: Seminars in Perinatology - Volume 30, Issue 6, December 2006, Pages 327–334
نویسندگان
Janine E. Bullard, Susan E. Wert, Lawrence M. Nogee,