Search for dissertations about: "glycerol kinase deficiency"

Found 1 swedish dissertation containing the words glycerol kinase deficiency.

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

    Author : Christina Hellerud; Göteborgs universitet.; Gothenburg University.; [2004]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; 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;

    Abstract : 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. READ MORE