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1
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 -
2
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 -
3
المؤلفون: Pascal Kienlen-Campard, Jean-Noël Octave, G Van den Berghe, Sandrine Marie, Emmanuel Hermans, Marie-Françoise Vincent, V. Race
المصدر: Nucleosides, nucleotidesnucleic acids. 23(8-9)
مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, Time Factors, Tetrazolium Salts, Biochemistry, chemistry.chemical_compound, Succinylpurines, Genetics, medicine, Animals, Humans, Nucleotide, Rats, Wistar, Cells, Cultured, Adenylosuccinate lyase deficiency, Skin, chemistry.chemical_classification, Neurons, Mechanism (biology), Neurotoxicity, Adenylosuccinate Lyase, General Medicine, Fibroblasts, medicine.disease, Rats, Thiazoles, chemistry, Purines, Adenylosuccinate, Nucleic acid, Molecular Medicine, Calcium
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d7e7aa1edf52ee595d0be91708b63a33Test
https://pubmed.ncbi.nlm.nih.gov/15571234Test -
4
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 -
5
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