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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 -
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المصدر: Analytical Biochemistry. 193:287-291
مصطلحات موضوعية: Male, Adenosine monophosphate, Ribonucleotide, Biophysics, Saccharomyces cerevisiae, Biochemistry, Substrate Specificity, chemistry.chemical_compound, Fumarates, Adenine nucleotide, Enzyme Stability, medicine, Animals, Humans, Carbon Radioisotopes, Adenylosuccinate lyase, Molecular Biology, Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Muscles, Adenylosuccinate Lyase, Rats, Inbred Strains, Cell Biology, Ribonucleotides, Aminoimidazole Carboxamide, medicine.disease, Adenosine Monophosphate, Rats, Cold Temperature, Enzyme, Liver, chemistry, Adenylosuccinate, Chromatography, Thin Layer
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ebddf88dc0908497d08a0ce7c82b007Test
https://doi.org/10.1016/0003-2697Test(91)90023-m -
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المؤلفون: Irène Ceballos-Picot, Arnold Munnich, Jeanne Amiel, Marie-Françoise Vincent, G Bourrouillou, Laurence Faivre, Muriel Holder-Espinasse, Marie-Cécile Nassogne, Sabine Marie, Cormier-Daire
المصدر: Scopus-Elsevier
مصطلحات موضوعية: Inosine monophosphate, medicine.medical_specialty, Microcephaly, Biology, Models, Biological, chemistry.chemical_compound, Seizures, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Purine metabolism, Adenylosuccinate lyase, Genetics (clinical), Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Facies, West Syndrome, medicine.disease, Aminoimidazole Carboxamide, Maxillofacial Abnormalities, Endocrinology, chemistry, Purines, Child, Preschool, Adenylosuccinate, Female, Letter to JMG
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::986723a49fb4d21afaf954c32af843b7Test
https://pubmed.ncbi.nlm.nih.gov/12070256Test -
5
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: Journal of inherited metabolic disease. 16(2)
مصطلحات موضوعية: Purine, Adenosine monophosphate, medicine.medical_specialty, Binding, Competitive, Potassium Chloride, Substrate Specificity, chemistry.chemical_compound, Internal medicine, Intellectual Disability, Genetics, medicine, Humans, Nucleotide, Fibroblast, Adenylosuccinate lyase, Child, Genetics (clinical), Cells, Cultured, Adenylosuccinate lyase deficiency, chemistry.chemical_classification, Nucleotides, organic chemicals, Adenylosuccinate Lyase, Fibroblasts, Hydrogen-Ion Concentration, Ribonucleotides, medicine.disease, Aminoimidazole Carboxamide, Chromatography, Ion Exchange, Adenosine Monophosphate, Kinetics, medicine.anatomical_structure, Endocrinology, chemistry, Adenylosuccinate, bacteria, Female, Nucleoside
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49157f6cc659af224cb085ad3371ffdaTest
https://pubmed.ncbi.nlm.nih.gov/8412002Test -
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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