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المصدر: Human molecular genetics. 9(14)
مصطلحات موضوعية: Time Factors, Genotype, Recombinant Fusion Proteins, Mutation, Missense, Biology, medicine.disease_cause, chemistry.chemical_compound, Intellectual Disability, Genetics, medicine, Humans, Thermolabile, Adenylosuccinate lyase, Purine metabolism, Molecular Biology, Genetics (clinical), Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Mutation, Homozygote, Adenylosuccinate Lyase, Temperature, General Medicine, Riboside, Fibroblasts, medicine.disease, Aminoimidazole Carboxamide, Adenosine Monophosphate, Recombinant Proteins, Kinetics, Enzyme, chemistry, Biochemistry, Adenylosuccinate, Chromatography, Gel, Electrophoresis, Polyacrylamide Gel, Ribonucleosides, 5' Untranslated Regions, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::abe022861dcccca9f1513352e0071971Test
https://pubmed.ncbi.nlm.nih.gov/10958654Test -
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المصدر: Molecular Genetics, Biochemistry and Clinical Aspects of Inherited Disorders of Purine and Pyrimidine Metabolism ISBN: 9783642849640
مصطلحات موضوعية: Inosine monophosphate, Autosomal recessive trait, chemistry.chemical_compound, Chemistry, Adenine nucleotide, Adenylosuccinate, Riboside, Adenylosuccinate lyase, Purine metabolism, Aminoimidazole Carboxamide, Molecular biology
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::bb7d2e8e589deca8ca00ff16be88c901Test
https://doi.org/10.1007/978-3-642-84962-6_20Test -
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المؤلفون: Marie-Françoise Vincent, Fa. Beemer, F. Vandenbergh, Fj. Vansprang, Georges Van den Berghe, Jacques Jaeken, Pm. Theunissen, Marinus Duran, Sk Wadman, P. Decock, Ra. Holl
المصدر: European journal of pediatrics. 148(2)
مصطلحات موضوعية: Male, medicine.medical_specialty, Adolescent, Lyases, chemistry.chemical_compound, Internal medicine, medicine, Humans, Adenylosuccinate lyase, Purine metabolism, Child, Wasting, Purine Nucleotides, Adenylosuccinate lyase deficiency, Psychomotor retardation, business.industry, Adenylosuccinate Lyase, Infant, Newborn, Infant, Riboside, medicine.disease, Endocrinology, chemistry, Child, Preschool, Pediatrics, Perinatology and Child Health, Adenylosuccinate, Female, medicine.symptom, Psychomotor Disorders, business, Psychomotor disorder, Metabolism, Inborn Errors
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e524060e642c0597790e059079183a78Test
https://pubmed.ncbi.nlm.nih.gov/3234432Test