Glycogenosis type 6 (liver phosphorylase deficiency). A case followed for ten years, with normal phosphorylase activity in white blood cells and jejunal mucosa.
D000293:Adolescent; D001706:Biopsy; D004837:Epinephrine / Q000494:pharmacology; D005500:Follow-Up Studies; D006003:Glycogen / Q000096:biosynthesis*; D006008:Glycogen Storage Disease / Q000235:genetics / Q000473:pathology*; D006801:Humans; D007413:Intestinal Mucosa / Q000201:enzymology; D007583:Jejunum / Q000201:enzymology; D007962:Leukocytes / Q000201:enzymology; D008099:Liver / Q000201:enzymology* / Q000473:pathology*; D008297:Male
D006003:Glycogen; D004837:Epinephrine