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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
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 -
3
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 -
4
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 -
5
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 -
6
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 -
7
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