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

المؤلفون: F Van den Bergh, Jacques Jaeken, Marie-Françoise Vincent, G Van den Berghe

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

المؤلفون: G Van den Berghe, F Van den Bergh, Jacques Jaeken, Marie-Françoise Vincent

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

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

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

المؤلفون: V. Race, Sandrine Marie, G Van den Berghe, Marie-Françoise Vincent, Marie-Cécile Nassogne

المساهمون: UCL - MD/BICL - Département de biochimie et de biologie cellulaire, UCL - MD/GYPE - Département de gynécologie, d'obstétrique et de pédiatrie, UCL - (SLuc) Service de neurologie pédiatrique, UCL - MD/NOPS - Département de neurologie et de psychiatrie

المصدر: American journal of human genetics, Vol. 71, no. 1, p. 14-21 (2002)

مصطلحات موضوعية: Untranslated region, DNA, Complementary, Five prime untranslated region, Molecular Sequence Data, Mutation, Missense, Biology, chemistry.chemical_compound, Mental Retardation, Intellectual Disability, medicine, Genetics, Missense mutation, Coding region, Humans, Genetics(clinical), RNA, Messenger, Cloning, Molecular, Adenylosuccinate lyase, Promoter Regions, Genetic, Gene, Genetics (clinical), Alleles, Adenylosuccinate lyase deficiency, Binding Sites, Epilepsy, Base Sequence, Adenylosuccinate Lyase, Chromosome Mapping, Articles, medicine.disease, Molecular biology, GA-Binding Protein Transcription Factor, DNA-Binding Proteins, chemistry, Adenylosuccinate, Mutation, Mutagenesis, Site-Directed, Female, Promoter Regions (Genetics), 5' Untranslated Regions, Transcription Factors

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::310f5e738bae2d2880ff70065d1b56d3Test
https://pubmed.ncbi.nlm.nih.gov/12016589Test

المؤلفون: Marie-Françoise Vincent, Sandrine Marie, Georges Van den Berghe, V. Race

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

المؤلفون: Marie-Françoise Vincent, F Van den Bergh, Georges Van den Berghe, Jacques Jaeken

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

المؤلفون: Marie-Françoise Vincent, F Van den Bergh, Jacques Jaeken, G Van den Berghe

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

المؤلفون: F Van den Bergh, Marie-Françoise Vincent, Jaak Jaeken, G Van den Berghe

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