Sökning: "glycerol kinase deficiency"
Hittade 1 avhandling innehållade orden glycerol kinase deficiency.
1. Glycerol kinase deficiency. Clinical, biochemical, and genetic aspects
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
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