Clinical, biochemical and molecular analysis of two infants with familial chylomicronemia syndrome
نویسندگان
چکیده
منابع مشابه
Two Case Reports of Familial Chylomicronemia Syndrome
Familial chylomicronemia is a rare autosomal recessive disorder which is also called Hyperlipoproteinemia type I. Here we report two cases with this rare disorder that were admitted to our hospital in recent years.
متن کاملTwo Siblings with Familial Chylomicronemia Syndrome: Disease Course and Effectiveness of Early Treatment
There are no adequate data that evaluate the safety and effectiveness of lowering triglyceride levels in very young children. The authors report a family with two male siblings, 7 and 4 years old, affected by familial hyperchylomicronemia. The oldest was diagnosed at birth during evaluation of jaundice, and the youngest showed asymptomatic hypertriglyceridemia by 6 months of age. Due to high tr...
متن کاملRecurrent acute and chronic pancreatitis in two brothers with familial chylomicronemia syndrome.
The chylomicronemia syndrome is well recognized as a rare etiologic factor of acute pancreatitis; however, whether hypertriglyceridemia can cause chronic pancreatitis (CP) remains unclear. We describe the long-time course of 2 brothers with the familial chylomicronemia syndrome caused by identical compound heterozygous mutations in the lipoprotein lipase (LPL) gene with markedly reduced LPL act...
متن کاملa comparative analysis of the marginal microleakages of two pit and fissure sealans, conseal-f and conseal clear
چکیده ندارد.
15 صفحه اولThe fish odour syndrome: biochemical, familial, and clinical aspects.
OBJECTIVES To study the biochemical, familial, and clinical features of the fish odour syndrome among subjects with suspected body malodour. DESIGN Subjects who responded to a newspaper article were screened for the fish odour syndrome by interview and biochemical tests. Families of subjects with the syndrome were tested if possible. SETTING St Mary's Hospital, London, and some interviews a...
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ژورنال
عنوان ژورنال: Lipids in Health and Disease
سال: 2016
ISSN: 1476-511X
DOI: 10.1186/s12944-016-0254-z