[Investigations of erythrocyte metabolism in trisomy 21 (author's transl)].
Although the present studies were carried out in a large number of patients, it is not possible to say wether (and what kind of) enzymes are genetically fixed on chromosome 21. It is to be hoped that further studies on the question of enzyme localization, particularly of phosphofructokinase, will afford some clarification.
D000227:Adenine Nucleotides / Q000097:blood; D002904:Chromosomes, Human, 21-22 and Y; D004314:Down Syndrome / Q000097:blood / Q000201:enzymology* / Q000235:genetics; D004912:Erythrocytes / Q000201:enzymology; D005796:Genes; D008040:Genetic Linkage; D005954:Glucosephosphate Dehydrogenase / Q000097:blood; D005978:Glutathione / Q000097:blood; D006801:Humans; D007773:Lactates / Q000097:blood; D010732:Phosphofructokinase-1 / Q000097:blood; D010734:Phosphogluconate Dehydrogenase / Q000097:blood; D011770:Pyruvate Kinase / Q000097:blood; D011773:Pyruvates / Q000097:blood; D014314:Trisomy
D000227:Adenine Nucleotides; D007773:Lactates; D011773:Pyruvates; D010734:Phosphogluconate Dehydrogenase; D005954:Glucosephosphate Dehydrogenase; D010732:Phosphofructokinase-1; D011770:Pyruvate Kinase; D005978:Glutathione
Untersuchungen des Erythrocytenstoffwechsels bei Trisomie 21