نتایج جستجو برای: seip lypodystrophy
تعداد نتایج: 181 فیلتر نتایج به سال:
Berardinelli–Seip Congenital Lipodystrophy( BSCL) also called Congenital Generalised Lipodystrophy (CGL) is a very rare autosomal recessive metabolic syndrome with a prevalence of less than1 case in 12 million. About 200 cases have been reported so far world-wide. BSCL2 ,the more severe form of the disease with onset in the neonatal period or early infancy is present in Lebanon, Portugal, Norwa...
Berardinelli-Seip congenital lipodystrophy (BSCL) is a rare autosomal recessive disorder of generalised lipoatrophy, characterised by the absence of functioning adipocytes, with lipid being stored in muscles, the liver and the pancreas. The usual presentation is in adulthood, with manifestations of insulin resistance, hypertriglyceridaemia and liver steatosis. Cirrhosis as the first presentatio...
Background Congenital generalized lipodystrophies (CGL) or Berardinelli-Seip Congenital Lipodystrophy (BSCL) are rare autosomal recessive disorders with reduction of subcutaneous and visceral adipose tissue, associated with deregulation of lipidic and glycidic metabolism, most of them developing insulin resistance and diabetes mellitus during the second decade of life. There are four CGL syndro...
Pancreatitis is among rare diseases in pediatrics clinics. It is usually presented with a sign of underlying systemic disease. Berardinelli-Seip congenital lipodystrophy (BSCL) is a very rare disease characterized by near absence of adipose tissue resulting in apparent muscle hypertrophy from birth or early infancy associated with severe insulin resistance. Common clinical features are hypertri...
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