کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
3974683 1257009 2010 7 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
Fatty acid oxidation disorders: maternal health and neonatal outcomes
موضوعات مرتبط
علوم پزشکی و سلامت پزشکی و دندانپزشکی زنان، زایمان و بهداشت زنان
پیش نمایش صفحه اول مقاله
Fatty acid oxidation disorders: maternal health and neonatal outcomes
چکیده انگلیسی

SummaryMitochondrial fatty acid β-oxidation (FAO) disorders have become an important group of inherited metabolic disorders causing serious pediatric and maternal morbidity and mortality. More than 20 defects affecting β-oxidation have been discovered, characterized by distinct enzyme or transporter deficiencies. This growing number of FAO disorders covers a wide spectrum of phenotypes and are characterized by a wide array of clinical presentations. We discuss the major mitochondrial FAO disorders and the impact they have on maternal health and neonatal outcomes; diagnostic tools and the value of genetic screening are reviewed; and current therapeutic approaches and management strategies are discussed.

ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Seminars in Fetal and Neonatal Medicine - Volume 15, Issue 3, June 2010, Pages 122–128
نویسندگان
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