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SUMMARY:The human knockout clinic: two illustrative inborn errors of fat a
 nd mitochondrial metabolism
DTSTART:20110830T140000
DTSTAMP:20261005T052827Z
UID:a85803de6a68ba49dd68879043dc7ec47d36342d58d889431893efb0
CATEGORIES:Conferences - Seminars
DESCRIPTION:Dr. David CASSIMAN MD\, PhD\, Dept. Hepatology & Metabolic Cen
 ter\, University of Leuven\, Belgium\nThe clinic of inborn errors of metab
 olism (IEM) still plays a role in the unraveling of normal and abnormal me
 tabolism and hence adds to our understanding of more common disorders as c
 ardiovascular disease\, metabolic syndrome and cancer. Knowledge of these 
 diseases and their further careful description are essential to make progr
 ess in our understanding and treatment of these and related diseases. This
  will be illustrated by discussing two fairly 'new' diseases\, Alpers synd
 rome (hepatocerebral degeneration due to mitochondrial DNA depletion) and 
 familial partial lipodystrophy ("metabolic syndrome++" due to mutations in
  PPARg or Lamin A/B). 
LOCATION:AI 1153 https://plan.epfl.ch/?room==AI%201153
STATUS:CONFIRMED
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