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المؤلفون: Michael J. Bennett, Dinesh Rakheja, Srinivas B. Narayan
المصدر: Current Molecular Medicine. 7:603-608
مصطلحات موضوعية: Fatty Acid Desaturases, medicine.medical_specialty, Arginine transport, Batten disease, Endosome, General Medicine, Biology, medicine.disease, Biochemistry, Congenital neuronal ceroid lipofuscinosis, Transmembrane protein, Cell membrane, medicine.anatomical_structure, Endocrinology, CLN3, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Animals, Humans, Molecular Medicine, Molecular Biology, Lipid raft, Neuroscience, Stearoyl-CoA Desaturase
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d337eaffff6b50957d3e89dbb82e00bf
https://doi.org/10.2174/156652407781695729 -
2
المؤلفون: Lu Tan, Richard L. Boriack, Laurie K. Russell, Chonan Tokunaga, Srinivas B. Narayan, Adam C. Seegmiller, Arnold W. Strauss, Michael J. Bennett
المصدر: Molecular Genetics and Metabolism. 89:74-79
مصطلحات موضوعية: Heterozygote, Protein Conformation, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Mutant, Mutation, Missense, Compound heterozygosity, medicine.disease_cause, Biochemistry, Endocrinology, Genetics, medicine, Humans, Missense mutation, Reye Syndrome, Molecular Biology, Beta oxidation, Mutation, biology, 3-Hydroxyacyl CoA Dehydrogenases, Infant, Acyl CoA dehydrogenase, medicine.disease, Molecular biology, Mitochondria, Kinetics, biology.protein, Female, Hyperinsulinism
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3
المؤلفون: Srinivas B. Narayan, Dinesh Rakheja, Kevin P. Rosenblatt, Scott R. Greene, Jichun Yang, Bryan A. Wolf, Michael J. Bennett, Johanne Pastor
المصدر: Molecular Genetics and Metabolism. 88:178-183
مصطلحات موضوعية: medicine.medical_specialty, Batten disease, Endocrinology, Diabetes and Metabolism, Protein Array Analysis, Apoptosis, Biology, engineering.material, Transfection, Biochemistry, Neuroblastoma, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Cell Line, Tumor, Internal medicine, Genetics, medicine, Humans, Molecular Biology, Neurons, Membrane Glycoproteins, Pancreatic islets, Autophagy, medicine.disease, medicine.anatomical_structure, Batten, CLN3, engineering, Cancer research, Cytokines, Neuronal ceroid lipofuscinosis, Apoptosis Regulatory Proteins, Molecular Chaperones
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4
المؤلفون: Michael L. Raff, Richard L. Boriack, Michael J. Bennett, Srinivas B. Narayan, S. Lane Rutledge
المصدر: Molecular Genetics and Metabolism. 82:59-63
مصطلحات موضوعية: Male, Mitochondrial Diseases, Adolescent, Endocrinology, Diabetes and Metabolism, DNA Mutational Analysis, Nonsense mutation, Biology, Biochemistry, Lipid Metabolism, Inborn Errors, Endocrinology, Ketogenesis, Genetics, medicine, Humans, Missense mutation, Carnitine palmitoyltransferase II, Child, Molecular Biology, Mitochondrial transport, Polymorphism, Genetic, Carnitine O-Palmitoyltransferase, Hypoketotic hypoglycemia, Infant, Sequence Analysis, DNA, Syndrome, Fibroblasts, Ketones, medicine.disease, Hypoglycemia, Liver, Child, Preschool, Mutation, Carnitine palmitoyltransferase I deficiency, Female, Carnitine palmitoyltransferase I
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5
المؤلفون: Michael J. Bennett, Srinivas B. Narayan, Lu Tan
المصدر: Molecular Genetics and Metabolism. 93:89-91
مصطلحات موضوعية: Heterozygote, Batten disease, Endocrinology, Diabetes and Metabolism, Biochemistry, Mice, Mice, Neurologic Mutants, Endocrinology, Neuronal Ceroid-Lipofuscinoses, Genetics, medicine, Animals, Pancreas, Molecular Biology, Gene, Mice, Knockout, Neurons, chemistry.chemical_classification, Membrane Glycoproteins, biology, Brain, Heterozygote advantage, medicine.disease, Molecular biology, Enzyme assay, Membrane glycoproteins, Enzyme, chemistry, CLN3, biology.protein, Thiolester Hydrolases, Function (biology), Molecular Chaperones
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6
المؤلفون: Kristina an Haack, Srinivas B. Narayan, Changhong Li, Michael J. Bennett, Ashley Warnock, Lu Tan
المصدر: Biochemical and biophysical research communications. 436(4)
مصطلحات موضوعية: medicine.medical_specialty, P-type calcium channel, Biophysics, chemistry.chemical_element, Apoptosis, Biology, Calcium, Biochemistry, Calcium in biology, Rats, Sprague-Dawley, Neuronal Ceroid-Lipofuscinoses, Internal medicine, medicine, Animals, Amlodipine, Gene Silencing, Molecular Biology, Calcium signaling, Neurons, TUNEL assay, Membrane Glycoproteins, Calcium channel, T-type calcium channel, Cell Biology, Calcium Channel Blockers, Rats, Endocrinology, chemistry, medicine.drug, Molecular Chaperones
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7
المؤلفون: Michael J. Bennett, Srinivas B. Narayan, Patricia M. Jones
المصدر: Laboratory Medicine. 34:190-192
مصطلحات موضوعية: medicine.medical_specialty, Creatinine, Sodium, Potassium, Phosphorus, Biochemistry (medical), Clinical Biochemistry, chemistry.chemical_element, Anion gap, Calcium, Chloride, chemistry.chemical_compound, Ammonia, Endocrinology, chemistry, Internal medicine, medicine, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::7b81e72298f789425edc76011fdd6d26
https://doi.org/10.1309/xqgvlvvb8kl2dwxg -
8
المؤلفون: Altina Ramos, Srinivas B. Narayan, Jorge Sales Marques, Michael J. Bennett, Hugo Alexandre Oliveira Rocha, Lurdes Lopes, Laura Vilarinho
المصدر: Molecular genetics and metabolism. 106(3)
مصطلحات موضوعية: medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Molecular Sequence Data, Biology, medicine.disease_cause, Biochemistry, Endocrinology, Neonatal Screening, Internal medicine, Carnitine, Genetics, medicine, Humans, Molecular Biology, chemistry.chemical_classification, Newborn screening, Mutation, Infant, Newborn, 3-Hydroxyacyl CoA Dehydrogenases, Genetic Variation, medicine.disease, 3-Hydroxyacyl-CoA Dehydrogenase, Enzyme, chemistry, Child, Preschool, 3-HYDROXYACYL-CoA DEHYDROGENASE DEFICIENCY, Novel mutation, Hyperinsulinism, Metabolism, Inborn Errors, medicine.drug
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9
المؤلفون: Srinivas B. Narayan, Heather W. Collins, Guoxiang Xiong, Changhong Li, Thomas J. Smith, Arnold W. Strauss, Yasmeen M. Butt, Jie Chen, Laurie K. Russell, Michael J. Bennett, David Stokes, Franz M. Matschinsky, Pan Chen, Andrew A. Palladino, Noam A. Cohen, Samir Sayed, Akiva S. Cohen, Patricia M. Jones, Charles A. Stanley, Itzhak Nissim
مصطلحات موضوعية: Blood Glucose, medicine.medical_specialty, medicine.medical_treatment, Biology, Biochemistry, chemistry.chemical_compound, Mice, Glutamate Dehydrogenase, Internal medicine, Hyperinsulinism, Insulin-Secreting Cells, medicine, Animals, Insulin, Amino Acids, Molecular Biology, chemistry.chemical_classification, Mice, Knockout, Fatty acid metabolism, Glutamate dehydrogenase, Fatty acid, 3-Hydroxyacyl CoA Dehydrogenases, Cell Biology, medicine.disease, Amino acid, Glutamine, Enzyme Activation, Endocrinology, Metabolism, chemistry, Ketoglutaric Acids, Leucine, Carbohydrate Metabolism, Inborn Errors
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d524554aca628d97a013fc97207d9394
https://europepmc.org/articles/PMC2951252/ -
10
المؤلفون: Dinesh Rakheja, Michael J. Bennett, Srinivas B. Narayan
المصدر: Molecular genetics and metabolism. 93(3)
مصطلحات موضوعية: Batten disease, Endocrinology, Diabetes and Metabolism, Biochemistry, Endocrinology, Membrane Microdomains, Neuronal Ceroid-Lipofuscinoses, Schizosaccharomyces, Genetics, medicine, Animals, Humans, Drosophila (subgenus), Molecular Biology, chemistry.chemical_classification, Membrane Glycoproteins, biology, Sequence Homology, Amino Acid, Brain, biology.organism_classification, medicine.disease, Amino acid, Sequence homology, chemistry, Drosophila, Function (biology), Molecular Chaperones