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1
المؤلفون: Francesca Ciardo, Paolo Curatolo, Costantino Salerno
المصدر: Journal of Child Neurology. 16:301-308
مصطلحات موضوعية: Purine, medicine.medical_specialty, Genetic heterogeneity, Biology, medicine.disease, Hypotonia, 03 medical and health sciences, chemistry.chemical_compound, Succinylpurines, 0302 clinical medicine, Cerebrospinal fluid, Endocrinology, chemistry, 030225 pediatrics, Internal medicine, Pediatrics, Perinatology and Child Health, Immunology, medicine, Effective treatment, Neurology (clinical), medicine.symptom, Adenylosuccinate lyase, 030217 neurology & neurosurgery, Adenylosuccinate lyase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::9abe9a490a4ec232ef3e390b33aa6726Test
https://doi.org/10.1177/088307380101600501Test -
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المؤلفون: D, Valik, J D, Jones, D, Valika
المصدر: Clinica Chimica Acta. 249:197-200
مصطلحات موضوعية: chemistry.chemical_classification, Screening test, Carbon-Nitrogen Lyases, Biochemistry (medical), Clinical Biochemistry, Metabolic disorder, Adenylosuccinate Lyase, General Medicine, Metabolism, Biology, medicine.disease, Biochemistry, Succinylpurines, Enzyme, chemistry, medicine, Humans, Mass Screening, Chromatography, Thin Layer, Adenylosuccinate lyase, Carbohydrate Metabolism, Inborn Errors, Adenylosuccinate lyase deficiency
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::43676ee2329d92457646e802efa8cc16Test
https://doi.org/10.1016/0009-8981Test(96)06319-x -
3
المؤلفون: Jakub Krijt, Ivan Sebesta, H. A. Simmonds, M. Shobowale
المصدر: Screening. 4:117-124
مصطلحات موضوعية: education.field_of_study, Pediatrics, medicine.medical_specialty, Screening test, Psychomotor retardation, business.industry, Population, Large population, Succinylpurines, Pediatrics, Perinatology and Child Health, Adenylosuccinase, Screening method, Medicine, medicine.symptom, business, education, Psychiatry, Pediatric population
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::017e9da11468796a99ac9fc3d9255dbcTest
https://doi.org/10.1016/0925-6164Test(95)00116-6 -
4
المؤلفون: Tomáš Adam, A. Hlobilková, Jana Sladkova, Lenka Žídková, Martin Magner, Marie Zikanova, Jiri Zeman, Stanislav Kmoch, Jakub Krijt, David Friedecký, Milan Elleder
المصدر: Molecular genetics and metabolism. 101(2-3)
مصطلحات موضوعية: Male, Endocrinology, Diabetes and Metabolism, Biology, Biochemistry, Succinylpurines, Endocrinology, Cerebrospinal fluid, Fatal Outcome, In vivo, Genetics, medicine, Humans, Purine metabolism, Adenylosuccinate lyase, Molecular Biology, Adenylosuccinate lyase deficiency, Adenylosuccinate Lyase, Infant, Newborn, medicine.disease, Aminoimidazole Carboxamide, Molecular biology, Adenosine Monophosphate, Oligodendroglia, Glycine, Ribonucleosides, Intracellular
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2ce74a0a1a531fdc61fd06231ed102Test
https://pubmed.ncbi.nlm.nih.gov/20674424Test -
5
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 -
6
المؤلفون: M. Gross, Daniela Verginelli, Costantino Salerno, B. Luckow
المصدر: Advances in Experimental Medicine and Biology ISBN: 9781461374565
مصطلحات موضوعية: medicine.medical_specialty, Psychomotor retardation, business.industry, Succinyladenosine, Riboside, Severe psychomotor retardation, Dephosphorylation, chemistry.chemical_compound, Succinylpurines, Endocrinology, chemistry, Internal medicine, medicine, Adenylosuccinase, Autistic features, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::38e158d38417e941e336fe0c3fb5d884Test
https://doi.org/10.1007/978-1-4615-5381-6_64Test -
7
المؤلفون: G Van den Berghe, John A. Duley, M. Gross, C. Salerno, Trevor W. Stone, R.A. de Abreu
المصدر: Clinical Biochemistry. 30:284
مصطلحات موضوعية: Succinylpurines, Chemistry, Clinical Biochemistry, Glutamate receptor, medicine, General Medicine, Pharmacology, Adenosine, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::a7a9dbdabd97719840e820ca28a931f6Test
https://doi.org/10.1016/s0009-9120Test(97)87805-8 -
8
المؤلفون: M. Gross, Daniela Verginelli, B. Luckow, Costantino Salerno
المصدر: Clinical Biochemistry. 30:257
مصطلحات موضوعية: Male, Purine-Pyrimidine Metabolism, Inborn Errors, medicine.medical_specialty, medicine.drug_class, Clinical Biochemistry, Carboxamide, Polymerase Chain Reaction, Nuclear Family, Dephosphorylation, Succinylpurines, chemistry.chemical_compound, Internal medicine, Adenylosuccinase, Humans, Point Mutation, Medicine, Autistic features, Lymphocytes, Codon, Cells, Cultured, DNA Primers, Psychomotor retardation, business.industry, Genetic Carrier Screening, General Medicine, Succinyladenosine, Riboside, adenylosuccinate lyase, inherited disease, Endocrinology, Italy, chemistry, Female, medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::90becbb214445a7457aa89e9a18aec20Test
https://doi.org/10.1016/s0009-9120Test(97)87693-x -
9
المؤلفون: Yutaro Nishida, T. Miyamoto
المصدر: General pharmacology. 19(2)
مصطلحات موضوعية: medicine.medical_specialty, Adenosine, Guinea pig uterus, Guinea Pigs, Uterus, Biology, In Vitro Techniques, Succinylpurines, chemistry.chemical_compound, Uterine Contraction, Theophylline, Internal medicine, medicine, Animals, Drug Interactions, Pharmacology, Receptors, Purinergic, Dipyridamole, In vitro, medicine.anatomical_structure, Endocrinology, chemistry, Adenylosuccinate, Female, medicine.drug, Histamine
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::87f69097769a90084c805af59b8587fbTest
https://pubmed.ncbi.nlm.nih.gov/3350335Test -
10
المؤلفون: Georges Van den Berghe, Marie-Françoise Vincent
المصدر: Advances in Experimental Medicine and Biology ISBN: 9781468456783
مصطلحات موضوعية: Succinylpurines, medicine.medical_specialty, medicine.anatomical_structure, Endocrinology, Cerebral cortex, Chemistry, Internal medicine, Anesthesia, medicine, Fraction (chemistry), Particulates, Adenosine, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::e6a8dc0d5689674b124fb47be335be46Test
https://doi.org/10.1007/978-1-4684-5676-9_65Test