Literature DB >> 31791451

[Diagnosis, monitoring and treatment of tuberous sclerosis complex].

Mark Reinhard, Lone Sunde, Mia Gebauer Madsen, Brian Nauheimer Andersen, Elisabeth Bendstrup, Mette Sommerlund, Hans Gjørup, Dorte Ancher Larsen, Hans Ulrik Møller, Dorte Guldbrand Nielsen, Ulrik Markus Mortensen, Mette Møller Handrup, Niels Kristian Muff Aagaard, Søren Cortnum, Dinah Sherzad Khatir, Michael Bayat, Gratien Andersen, Brian Stausbøl-Grøn, Jakob Christensen1.   

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder with highly varying disease manifestations, many of which cause extensive morbidity. There are international consensus criteria for the diagnosis, monitoring and treatment of TSC, and approved medical treatment for some of the most serious disease manifestations. However, organisation of a rational and coordinated care of TSC patients involves many different medical specialities and is only sparsely described. This review describes the interdisciplinary care of TSC patients at Aarhus University Hospital, Denmark.

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Year:  2019        PMID: 31791451

Source DB:  PubMed          Journal:  Ugeskr Laeger        ISSN: 0041-5782


  1 in total

1.  [Genetic analysis of a mosaic case with low proportion mutation of TSC2 gene].

Authors:  Xiaoxiao Jin; Pengzhen Jin; Kai Yan; Yeqing Qian; Minyue Dong
Journal:  Zhejiang Da Xue Xue Bao Yi Xue Ban       Date:  2020-10-25
  1 in total

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