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1دورية أكاديمية
المؤلفون: Giorgia Olivieri, Diego Martinelli, Daniela Longo, Chiara Grimaldi, Daniela Liccardo, Ivano Di Meo, Andrea Pietrobattista, Anna Sidorina, Michela Semeraro, Carlo Dionisi-Vici
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
مصطلحات موضوعية: Liver transplantation, Ethylmalonic encephalopathy, ETHE1, Thiosulphate, Motor function, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Michela Semeraro, Elisa Sacchetti, Federica Deodato, Turgay Coşkun, Incilay Lay, Giulio Catesini, Giorgia Olivieri, Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
مصطلحات موضوعية: Oligosaccharides, Storage disorders, Pompe disease, Autophagy, Danon disease, Vici syndrome, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Alessia Nasca, Francesca Nardecchia, Anna Commone, Michela Semeraro, Andrea Legati, Barbara Garavaglia, Daniele Ghezzi, Vincenzo Leuzzi
المصدر: Frontiers in Genetics, Vol 9 (2018)
مصطلحات موضوعية: mitochondrial fission factor, MFF, epileptic encephalopathy, leigh syndrome, mitochondrial disorders, mitochondria, Genetics, QH426-470
وصف الملف: electronic resource
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4دورية أكاديمية
المؤلفون: Gloria Maria Barraco, Rosa Luciano, Michela Semeraro, Pedro L. Prieto-Hontoria, Melania Manco
المصدر: International Journal of Molecular Sciences, Vol 15, Iss 11, Pp 19760-19776 (2014)
مصطلحات موضوعية: adipose tissue, adipokines, cardiovascular disease, childhood obesity, inflammation, metabolic syndrome, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Giulia Cinelli, Marta Fabrizi, Lucilla Ravà, Fabrizio Signore, Pamela Vernocchi, Michela Semeraro, Cristina Vallone, Rosalba Lanciotti, Marta Ciofi degli Atti, Melania Manco
المصدر: Nutrients, Vol 10, Iss 4, p 402 (2018)
مصطلحات موضوعية: birth weight, small for gestational age, fatty acids, saturated fatty acids, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
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6
المؤلفون: Cristiano Rizzo, Sara Boenzi, Carlo Dionisi-Vici, Giorgia Olivieri, Federica Deodato, Michela Semeraro, Giulio Catesini, Incilay Lay, Turgay Coşkun, Elisa Sacchetti
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-11 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Fucosidosis, medicine.medical_specialty, Aspartylglucosaminuria, Oligosaccharides, lcsh:Medicine, Urine, Gangliosidosis, Gastroenterology, Tandem Mass Spectrometry, Internal medicine, medicine, Autophagy, Humans, Pharmacology (medical), Danon disease, Sialidosis, Chromatography, High Pressure Liquid, Genetics (clinical), Glycogen Storage Disease Type II, business.industry, Mucolipidosis, Research, lcsh:R, Pompe disease, Storage disorders, General Medicine, medicine.disease, Vici syndrome, Lysosomal Storage Diseases, Biomarker (medicine), business, Yunis-varon syndrome
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7
المؤلفون: Barbara Siri, Giorgia Olivieri, Antonio Angeloni, Sara Cairoli, Claudia Carducci, Giovanna Cotugno, Silvia Di Michele, Teresa Giovanniello, Giancarlo La Marca, Francesca Romana Lepri, Antonio Novelli, Claudia Rossi, Michela Semeraro, Carlo Dionisi-Vici
المصدر: Molecular genetics and metabolism. 135(4)
مصطلحات موضوعية: Citrullinemia, Endocrinology, Neonatal Screening, Endocrinology, Diabetes and Metabolism, Genetics, Infant, Newborn, Citrulline, Humans, Urea, Molecular Biology, Biochemistry, Urea Cycle Disorders, Inborn
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8
المؤلفون: Paolo Ferracin, Juan Carlos Perez, S. Triquet, Daniel W. Cheng, Soren Prestemon, Giorgio Ambrosio, E. Anderssen, Michela Semeraro, Mariusz Juchno, Philippe Grosclaude, Nicolas Bourcey, Michael Guinchard, Giorgio Vallone, Friedrich Lackner, Heng Pan, Susana Izquierdo Bermudez
المصدر: IEEE Transactions on Applied Superconductivity. 29:1-5
مصطلحات موضوعية: Physics, Luminosity (scattering theory), Large Hadron Collider, Ignition coil, Condensed Matter Physics, 01 natural sciences, Electronic, Optical and Magnetic Materials, Nuclear physics, chemistry.chemical_compound, Cross section (physics), chemistry, Electromagnetic coil, Magnet, 0103 physical sciences, Quadrupole, Electrical and Electronic Engineering, Niobium-tin, 010306 general physics
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9
المؤلفون: Michela Semeraro, Andrea Pietrobattista, Carlo Dionisi-Vici, Daniela Liccardo, Diego Martinelli, Giorgia Olivieri, Ivano Di Meo, Anna Sidorina, Chiara Grimaldi, Daniela Longo
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-9 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: 0301 basic medicine, Pediatrics, medicine.medical_specialty, Thiosulphate, Urinary system, medicine.medical_treatment, Liver transplantation, Mitochondrial Proteins, 03 medical and health sciences, 0302 clinical medicine, Ethylmalonic encephalopathy, medicine, Humans, Pharmacology (medical), Motor function, Purpura, Genetics (clinical), Cerebral atrophy, Psychomotor learning, Newborn screening, business.industry, Research, Metabolic disorder, Brain Diseases, Metabolic, Inborn, General Medicine, medicine.disease, 030104 developmental biology, Medicine, ETHE1, business, 030217 neurology & neurosurgery
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10
المؤلفون: Sara Boenzi, Carlo Dionisi-Vici, Michela Semeraro, Rosalba Carrozzo, Federica Deodato, Roberta Taurisano, Elisa Sacchetti
المصدر: Clinica Chimica Acta. 486:387-394
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Clinical Biochemistry, Disease, Biochemistry, Gastroenterology, 03 medical and health sciences, 0302 clinical medicine, Tandem Mass Spectrometry, Internal medicine, medicine, Humans, Diagnostic biomarker, In patient, Clinical phenotype, Sphingolipids, business.industry, Lysine, Biochemistry (medical), Niemann-Pick Disease, Type C, Oxysterols, General Medicine, Phenotype, Sphingomyelin Phosphodiesterase, 030104 developmental biology, Lysosphingolipids, lipids (amino acids, peptides, and proteins), Acid sphingomyelinase, business, Biomarkers, 030217 neurology & neurosurgery, Chromatography, Liquid, medicine.drug