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المؤلفون: G Van den Berghe, Jacques Jaeken, Marie-Françoise Vincent
المصدر: Journal of Inherited Metabolic Disease. 20:193-202
مصطلحات موضوعية: chemistry.chemical_classification, Purine, Purine-Pyrimidine Metabolism, Inborn Errors, Adenylosuccinate Lyase, Purine nucleotide cycle, Biology, Prognosis, medicine.disease, Aminoimidazole Carboxamide, chemistry.chemical_compound, chemistry, Biochemistry, Adenylosuccinate, Genetics, medicine, Animals, Humans, Nucleotide, Adenylosuccinate lyase, Purine metabolism, Genetics (clinical), Adenylosuccinate lyase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78e3dc9a536b70f2092a9d0f400f2e9aTest
https://doi.org/10.1023/a:1005304722259Test -
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المصدر: Journal of Inherited Metabolic Disease. 16:425-434
مصطلحات موضوعية: Adenosine monophosphate, Purine, Formates, Adenylate kinase, Biology, chemistry.chemical_compound, Adenosine Triphosphate, Adenine nucleotide, Intellectual Disability, Genetics, medicine, Humans, Child, Adenylosuccinate lyase, Cells, Cultured, Genetics (clinical), Hypoxanthine, Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Fibroblasts, Ribonucleotides, Aminoimidazole Carboxamide, medicine.disease, Molecular biology, Adenosine Monophosphate, chemistry, Biochemistry, Hypoxanthines, Adenylosuccinate
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3bc6cf54e225447f17c981c1bac8db50Test
https://doi.org/10.1007/bf00710293Test