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المؤلفون: Sandrine Marie, Patrick Edery, Marc Tardieu, Marie-Françoise Vincent, Irène Ceballos-Picot, Stéphane Chabrier
المصدر: American Journal of Medical Genetics. :185-190
مصطلحات موضوعية: Male, Telencephalon, Proband, medicine.medical_specialty, Adolescent, Genes, Recessive, Biology, Corpus Callosum, Variable Expression, Consanguinity, Cerebellum, Internal medicine, medicine, Humans, Adenylosuccinate lyase, Genetics (clinical), Adenylosuccinate lyase deficiency, Psychomotor retardation, Homozygote, Adenylosuccinate Lyase, Genetic Variation, Aminoimidazole Carboxamide, medicine.disease, Pedigree, Radiography, Developmental disorder, Phenotype, Endocrinology, Cerebellar vermis atrophy, Mutation, Female, Ribonucleosides, medicine.symptom, Psychomotor disorder
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfa193a27bef0df93c4267b8cf6f579cTest
https://doi.org/10.1002/ajmg.a.20176Test -
32
المؤلفون: Valérie P. Vanhulle, Jean-Marie Pycke, Geneviève A Martiat, Yves Horsmans, Marie-Françoise Vincent, Roger K. Verbeeck, Nathalie M. Delzenne, Françoise Bontemps
المصدر: Cellular Physiology and Biochemistry. 13:103-112
مصطلحات موضوعية: Male, Anabolism, Physiology, Sodium, chemistry.chemical_element, Carbohydrate metabolism, Cryopreservation, Time, Andrology, chemistry.chemical_compound, Oxygen Consumption, Stress, Physiological, Freezing, Animals, Glycolysis, Rats, Wistar, Incubation, Ions, ATP synthase, biology, Glycogen, Caspase 3, Lipid Metabolism, Mitochondria, Rats, Proton-Translocating ATPases, Glucose, Liver, chemistry, Biochemistry, Caspases, biology.protein
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2ec2e2cfd10fb781cb33696bd5c690adTest
https://doi.org/10.1159/000070254Test -
33
المؤلفون: Sandrine Marie, Marie-Cécile Nassogne, Christine Bonnier, Geneviève Aubert, C. Saint-Martin, Guillaume Sébire, Georges Van den Berghe, Brigitte Henrot, Marie-Françoise Vincent
المصدر: Brain and Development. 22:383-386
مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Microcephaly, Central nervous system disease, Epilepsy, Developmental Neuroscience, Internal medicine, medicine, Adenylosuccinase, Humans, Age of Onset, Adenylosuccinate lyase, Adenylosuccinate lyase deficiency, Psychomotor retardation, business.industry, Adenylosuccinate Lyase, Brain, Brain Diseases, Metabolic, Inborn, Electroencephalography, General Medicine, medicine.disease, Magnetic Resonance Imaging, Endocrinology, Child, Preschool, Pediatrics, Perinatology and Child Health, Disease Progression, Etiology, Female, Neurology (clinical), medicine.symptom, business
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c0e6f1d4afc621eae18f0bec633ad6eTest
https://doi.org/10.1016/s0387-7604Test(00)00154-6 -
34
المؤلفون: François Van Hoof, André Schanck, Edmond de Hoffmann, R. Libert, Marc Thillaye, Marie-Cécile Nassogne, Marie-Françoise Vincent
المصدر: Clinica Chimica Acta. 295:87-96
مصطلحات موضوعية: Adult, Male, Methylmalonyl-CoA Decarboxylase, Carboxy-Lyases, Clinical Biochemistry, Methylmalonic acidemia, Methylmalonic acid, Propionyl-CoA carboxylase, Urine, Spectrometry, Mass, Fast Atom Bombardment, Biochemistry, Gas Chromatography-Mass Spectrometry, Lipid Metabolism, Inborn Errors, chemistry.chemical_compound, Carnitine, medicine, Humans, chemistry.chemical_classification, Chromatography, Propionyl-CoA carboxylase deficiency, Biochemistry (medical), Infant, Fatty acid, General Medicine, medicine.disease, chemistry, Case-Control Studies, Propionates, Gas chromatography–mass spectrometry, Methylmalonic Acid, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9faa000b8557fbde995b26f64503cef4Test
https://doi.org/10.1016/s0009-8981Test(00)00195-9 -
35
المؤلفون: Marie-Cécile Nassogne, Marie-Françoise Vincent, André Schanck, F. Van Hoof, M. Thillaye, R. Libert, E. De Hoffmann, Vincent Stroobant
المصدر: Journal of Inherited Metabolic Disease. 22:9-18
مصطلحات موضوعية: chemistry.chemical_classification, Chromatography, biology, Chemistry, Metabolite, Glycine, Acyl CoA dehydrogenase, Fatty acid, Glucuronates, Urine, Medium-Chain Acyl-CoA Dehydrogenase Deficiency, Mass spectrometry, Acyl-CoA Dehydrogenase, chemistry.chemical_compound, Enzyme, Acyl-CoA Dehydrogenases, Biochemistry, Carnitine, Child, Preschool, Genetics, biology.protein, Humans, Female, Urine sample, Genetics (clinical)
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::521347a5a3a67fd6c970606ad799ce7aTest
https://doi.org/10.1023/a:1005482828392Test -
36
المؤلفون: Martine Jaspers, Eric Legius, XX Gu, Jacques Jaeken, Harry Cuppens, M Heuterspreute, S. Marie, George Van den Berghe, EZ Tola, Marie-Françoise Vincent, Jean-Jacques Cassiman
المصدر: Human Mutation. 13:197-202
مصطلحات موضوعية: RNA Splicing, DNA Mutational Analysis, Mutation, Missense, Biology, medicine.disease_cause, Intellectual Disability, Genetics, medicine, Humans, Point Mutation, Missense mutation, Child, Adenylosuccinate lyase, Gene, Genetics (clinical), DNA Primers, Adenylosuccinate lyase deficiency, Mutation, Reverse Transcriptase Polymerase Chain Reaction, Point mutation, Adenylosuccinate Lyase, medicine.disease, Molecular biology, RNA splicing, Mutation testing
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::550f53291c841425cfbea6624b9b856fTest
https://doi.org/10.1002Test/(sici)1098-1004(1999)13:3<197::aid-humu3>3.0.co;2-d -
37
المؤلفون: Naziha Kaabachi, Marie-Françoise Vincent, A. Larnaout, Fayçal Hentati, Najoua Miladi, Jean-Louis Dhondt
المصدر: Journal of Child Neurology. 13:475-480
مصطلحات موضوعية: Male, Microcephaly, Pathology, medicine.medical_specialty, Tunisia, Autopsy, Basal ganglia calcification, Neuropathology, Folic Acid Deficiency, Biology, White matter, Consanguinity, Necrosis, 03 medical and health sciences, 0302 clinical medicine, Basal Ganglia Diseases, Metabolic Diseases, Phenylketonurias, 030225 pediatrics, medicine, Humans, Child, Putamen, Calcinosis, medicine.disease, Dihydropteridine Reductase, Pedigree, medicine.anatomical_structure, Motor Skills, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), 030217 neurology & neurosurgery, Brain Stem, Calcification
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffbd8a8697041d2d36dc0548b487369aTest
https://doi.org/10.1177/088307389801301002Test -
38
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 -
39
المصدر: Diabetologia. 39:1148-1155
مصطلحات موضوعية: Blood Glucose, Male, medicine.medical_specialty, Phosphoric monoester hydrolases, Ratón, Endocrinology, Diabetes and Metabolism, Fructose 1,6-bisphosphatase, Mice, Inbred Strains, Phosphates, Mice, chemistry.chemical_compound, Adenosine Triphosphate, In vivo, Internal medicine, Internal Medicine, medicine, Animals, Hypoglycemic Agents, Muscle, Skeletal, biology, Fasting, Metabolism, Ribonucleotides, Riboside, Aminoimidazole Carboxamide, Rats, Glucose, Endocrinology, Liver, Mechanism of action, Gluconeogenesis, chemistry, Lactates, biology.protein, medicine.symptom, Glycogen
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7bac8c501e44e5fc3c48328bf06b0e6eTest
https://doi.org/10.1007/bf02658500Test -
40
المصدر: Biochemical Pharmacology. 52:999-1006
مصطلحات موضوعية: Male, Time Factors, Substrate Cycling, AICA-Ribotide, Adenosine kinase, Biochemistry, Dephosphorylation, Nucleotidase, medicine, Animals, Nucleotide, Rats, Wistar, Purine Nucleotides, Pharmacology, chemistry.chemical_classification, Dose-Response Relationship, Drug, biology, Metabolism, Aminoimidazole Carboxamide, Adenosine, Rats, Liver, chemistry, biology.protein, Ribonucleosides, medicine.drug
الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3d9e9e85ee7ef1b93c2ee6df54099a4aTest
https://doi.org/10.1016/0006-2952Test(96)00413-3