title: Hereditary thrombocytopathies with abnormal release reaction (author's transl).
abstract: The authors have examined 8 cases with Hermansky-Pudlak syndrome in whom besides the usual abnormalities of abnormal aggregation with collagen, absence of second wave of aggregation, reduction of the 5-HT uptake, presence of 5-HIAA in the platelets, two new abnormalities are described: the presence of a large amount of an unidentified metabolite after 5-HT incorporation which differs from 5-HT and 5 hydroxytryptophol and an abnormal incorporation of labelled glycerol in the triglycerides. Correlation between abnormal lipid metabolism and defective 5-HT incorporation is discussed.
mesh_terms: D000244:Adenosine Diphosphate / Q000494:pharmacology; D000417:Albinism / Q000235:genetics; D001853:Bone Marrow / Q000378:metabolism; D001854:Bone Marrow Cells; D003018:Clot Retraction; D003094:Collagen / Q000494:pharmacology; D003594:Cytoplasmic Granules; D004837:Epinephrine / Q000494:pharmacology; D005990:Glycerol / Q000378:metabolism; D006474:Hemorrhagic Disorders / Q000235:genetics*; D006801:Humans; D008264:Macrophages / Q000378:metabolism; D010974:Platelet Aggregation; D012310:Ristocetin / Q000494:pharmacology; D012701:Serotonin / Q000378:metabolism; D013577:Syndrome; D014280:Triglycerides / Q000378:metabolism
chemical_list: D014280:Triglycerides; D012310:Ristocetin; D012701:Serotonin; D000244:Adenosine Diphosphate; D003094:Collagen; D005990:Glycerol; D004837:Epinephrine
vernacular_title: Thrombopathies héréditaires par trouble de libération