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1
المؤلفون: C. J. Thompson, B. T. Emmerson, D. C. Wallace
المصدر: Annals of internal medicine. 76(2)
مصطلحات موضوعية: Adult, Male, Heterozygote, Purine-Pyrimidine Metabolism, Inborn Errors, Enzyme deficiency, Erythrocytes, Guanine, Adolescent, Chorea, Intellectual Disability, Internal Medicine, medicine, Humans, Fibroblast, Child, Athetosis, Aged, biology, business.industry, Phosphotransferases, Heterozygote advantage, General Medicine, Middle Aged, medicine.disease, Molecular biology, Uric Acid, medicine.anatomical_structure, Hypoxanthine-guanine phosphoribosyltransferase, Child, Preschool, Hypoxanthines, Mutation, biology.protein, Compulsive Behavior, Self Mutilation, Phosphoribosyltransferase, Female, Lesch–Nyhan syndrome, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::766df95ce71dad614c20b571543a761cTest
https://pubmed.ncbi.nlm.nih.gov/5009595Test -
2
المؤلفون: Meister A
المصدر: Annals of Internal Medicine. 81:247
مصطلحات موضوعية: Adult, Male, Anemia, Hemolytic, Cell Membrane Permeability, Erythrocytes, Enzyme deficiency, Proline, Glycine, Kidney, Amidohydrolases, Text mining, Glutamates, Internal Medicine, Humans, Medicine, Cysteine, Amino Acids, Peptide Synthases, Amino Acid Metabolism, Inborn Errors, Specific enzyme, business.industry, Infant, Newborn, Infant, gamma-Glutamyltransferase, General Medicine, Glutathione, Pyrrolidonecarboxylic Acid, Biochemistry, Child, Preschool, Female, business, Acyltransferases
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::deb7ba201027d1b09cf447e243fe3be1Test
https://doi.org/10.7326/0003-4819-81-2-247Test