International Journal of Pediatrics، جلد ۵، شماره ۱۰، صفحات ۵۸۳۹-۵۸۴۲
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عنوان انگلیسی Lipoprotein Lipase (LPL) Gene Mutation: A First Report in Children
چکیده انگلیسی مقاله Genetic hyperchylomicronemia is a rare autosomal recessive disorder of lipoprotein metabolism estimated to affect approximately one per million individuals. We report a case with a rare mutation identified. It's a genetic chylomicronemia in a Moroccan newborn baby, with massive hypertriglyceridemia and clinical signs of acute pancreatitis. She was a newborn female, first-degree of consanguineous parents. She was hospitalized for hypertriglyceridemia, complicated by acute pancreatitis; serum was noted to be milky. The genetic study found a mutation of the Lipoprotein Lipase (LPL) gene: homozygous pathogenic variant c.1019-3C > A. She enjoyed good health, developed well and the triglyceride was maintained at a concentration of
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نویسندگان مقاله نادیا el idrissi slitine | nadia el idrissi slitine
neonatal intensive care department, mohammed vi university hospital and research and team for childhood, health and development, marrakech school of medicine, cadi ayyad university, marrakech, morocco.


fatiha bennaoui | fatiha bennaoui
neonatal intensive care department, mohammed vi university hospital and research and team for childhood, health and development, marrakech school of medicine, cadi ayyad university, marrakech, morocco.


ouidad louachama | ouidad louachama
neonatal intensive care department, mohammed vi university hospital and research and team for childhood, health and development, marrakech school of medicine, cadi ayyad university, marrakech, morocco.


لیلا حبیبی | leila habibi
neonatal intensive care department, mohammed vi university hospital and research and team for childhood, health and development, marrakech school of medicine, cadi ayyad university, marrakech, morocco.


نعیما fdil | naima fdil
biochemistry laboratory, arrazi hospital, mohammed vi university hospital, marrakesh, morocco.


abdelali تالی | abdelali tali
biochemistry department, school of medicine, cadi ayyad university, morocco.


لیلا chabaa | laila chabaa
biochemistry laboratory, arrazi hospital, mohammed vi university hospital, marrakesh, morocco and biochemistry department, school of medicine ,cadi ayyad university, morocco.


fadl mrabih rabou maoulainine | fadl mrabih rabou maoulainine
neonatal intensive care department, mohammed vi university hospital and research and team for childhood, health and development, marrakech school of medicine, cadi ayyad university, marrakech, morocco.
نشانی اینترنتی http://ijp.mums.ac.ir/article_9140.html
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