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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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المؤلفون: Diego Martinelli, Giulio Catesini, Benedetta Greco, Alessia Guarnera, Chiara Parrillo, Evelina Maines, Daniela Longo, Antonio Napolitano, Francesca De Nictolis, Sara Cairoli, Daniela Liccardo, Stefania Caviglia, Anna Sidorina, Giorgia Olivieri, Barbara Siri, Roberto Bianchi, Gionata Spagnoletti, Luca Dello Strologo, Marco Spada, Carlo Dionisi‐Vici
المصدر: Journal of Inherited Metabolic Disease. 46:450-465
مصطلحات موضوعية: Genetics, Genetics (clinical)
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المصدر: Journal of cosmetic dermatologyREFERENCES.
مصطلحات موضوعية: Dermatology
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المؤلفون: Sara Boenzi, Stefano Levi Mortera, Giulio Catesini, Federica Deodato, Lorenza Putignani, Matteo Garibaldi, Valeria Marzano, Roberta Taurisano, Anna Sidorina, Carlo Dionisi-Vici
المصدر: Journal of Inherited Metabolic Disease. 44:705-717
مصطلحات موضوعية: Adult, Male, Proteomics, Phospholipid, 03 medical and health sciences, chemistry.chemical_compound, Immune system, Tandem Mass Spectrometry, Autophagy, Genetics, Humans, Child, Lactate Dehydrogenases, Phospholipids, Genetics (clinical), 030304 developmental biology, chemistry.chemical_classification, 0303 health sciences, Aryldialkylphosphatase, Glycogen Storage Disease Type II, Chemistry, 030305 genetics & heredity, Infant, Fatty acid, Metabolism, Lipid Metabolism, PON1, Enzyme, Biochemistry, Child, Preschool, Lipidomics, Female, Lysosomes, gpld1, phosphatidylcholine metabolism, plasma lipidome, plasma proteome, pompe disease, Homeostasis, Chromatography, Liquid
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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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المؤلفون: Pamela Vernocchi, Rachele Adorisio, S. Levi Mortera, Lorenza Putignani, Nicoletta Cantarutti, Anna Sidorina, Anwar Baban, Fabrizio Drago, Antonio Amodeo
المصدر: The Journal of Heart and Lung Transplantation. 40:S463-S464
مصطلحات موضوعية: Pulmonary and Respiratory Medicine, Transplantation, Pediatrics, medicine.medical_specialty, Proteomic Profile, business.industry, medicine.disease, Pulmonary hypertension, medicine, Surgery, Young adult, Complex congenital heart disease, Cardiology and Cardiovascular Medicine, business, Cohort study