نتایج جستجو برای: congenital generalized lipodystrophy
تعداد نتایج: 286938 فیلتر نتایج به سال:
Loss of fatty tissue occurring in a partial or generalized distribution is called as lipodystrophy. Generalized lipodystrophy may be congenital or acquired in nature. Congenital generalized lipodystrophy or Berardinelli-Seip syndrome is a rare autosomal recessive multisystem disorder characterized by the near absence of subcutaneous and visceral adipose tissue from birth or early infancy with s...
Context Lipodystrophy syndromes are characterized by generalized or partial absence of adipose tissue. Objective We conducted a systematic review to synthesize data on clinical and metabolic features of lipodystrophy (age at onset, < 18 years). Data Source Sources included Medline, Embase, Cochrane Library, Scopus and Non-Indexed Citations from inception through January 2016. Study Select...
Deletion mutation in BSCL2 gene underlies congenital generalized lipodystrophy in a Pakistani family
BACKGROUND Congenital generalized lipodystrophy (CGL) also known as Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a genetically heterogeneous disorder characterized by loss of adipose tissues, Acanthosis nigricans, diabetes mellitus, muscular hypertrophy, hepatomegaly and hypertriglyceridemia. There are four subclinical phenotypes of CGL (CGL1-4) and mutations in four genes AGPAT2, BSCL2...
Lipodystrophies are a group of heterogeneous disorders characterized by the loss of adipose tissue and metabolic complications. The main familial forms of lipodystrophy are Congenital Generalized Lipodystrophy and Familial Partial Lipodystrophy (FPLD). FPLD may result from mutations in the LMNA gene. Besides FPLD, mutations in LMNA have been shown to be responsible for other inherited diseases ...
generalized lipodystrophy is a rare disorder in children characterized by absence of subcutaneous adipose tissue. we evaluated 10 patients with generalized lipodystrophy by skin and liver biopsy. eight patients with steatohepatitis and cirrhosis were treated with ursobile (uorsodeoxycholic acid) and vitamin e. in follow-up, serum triglyceride level was decreased.
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