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, 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: 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