-
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: 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 -
3
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 -
4
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 -
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 -
6
المصدر: Purine and Pyrimidine Metabolism in Man VIII ISBN: 9781461361053
مصطلحات موضوعية: Purine, Biology, medicine.disease, Dephosphorylation, De novo synthesis, chemistry.chemical_compound, Cytosol, chemistry, Biochemistry, Adenylosuccinate, medicine, Adenylosuccinate lyase, Purine metabolism, Adenylosuccinate lyase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::d3b8e02eb39cd6558830dc7a7d21ad97Test
https://doi.org/10.1007/978-1-4615-2584-4_78Test -
7
المصدر: Progress in neurobiology. 39(5)
مصطلحات موضوعية: Purine-Pyrimidine Metabolism, Inborn Errors, General Neuroscience, Purine nucleotide cycle, AMP deaminase, Adenylosuccinate synthase, Biology, Purine/pyrimidine metabolism, medicine.disease, chemistry.chemical_compound, Biochemistry, chemistry, Adenylosuccinate, biology.protein, medicine, Animals, Humans, Adenylosuccinate lyase, Purine metabolism, Purine Nucleotides, Adenylosuccinate lyase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e1b9ee2d1164ac43417e3f8b2209392dTest
https://pubmed.ncbi.nlm.nih.gov/1529104Test