Sökning: "Christina Hellerud"

Hittade 1 avhandling innehållade orden Christina Hellerud.

1. 1. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects

   Författare :Christina Hellerud; Göteborgs universitet; []
   Nyckelord :contiguous gene syndrome; diagnose; exercise; fasting; glucose deficit; glycerol; glycerol kinase deficiency; metabolism; molecular modelling; mRNA analysis; mutation; natural history; prognosis; splice-junction analysis; treatment; triglycerides;

   Sammanfattning : Glycerol kinase deficiency (GKD, MIM 307030) is an X-linked recessive inborn error of metabolism occurring isolated or in an Xp contiguous gene syndrome with adrenal hypoplasia and/or Duchenne muscular dystrophy. The gene syndrome is due to deletions in the p21 region on the X chromosome. LÄS MER