-
1دورية أكاديمية
المصدر: Metabolites, Vol 14, Iss 8, p 428 (2024)
مصطلحات موضوعية: methylmalonic acidemia, propionic acidemia, cblC deficiency, untargeted metabolomics, Microbiology, QR1-502
وصف الملف: electronic resource
-
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
-
3
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)
-
4
المؤلفون: Irini Manoli, Abigael Gebremariam, Samantha McCoy, Alexandra R. Pass, Jack Gagné, Camryn Hall, Susan Ferry, Carol Van Ryzin, Jennifer L. Sloan, Elisa Sacchetti, Giulio Catesini, Cristiano Rizzo, Diego Martinelli, Marco Spada, Carlo Dionisi‐Vici, Charles P. Venditti
المصدر: Journal of Inherited Metabolic Disease.
مصطلحات موضوعية: Genetics, Genetics (clinical)
-
5
المؤلفون: Francesco Tagliaferri, Elisa Sacchetti, Federica Deodato, Carlo Dionisi-Vici, Giulio Catesini, Sara Boenzi
المصدر: Molecular Genetics and Metabolism. 134:337-343
مصطلحات موضوعية: Adolescent, Endocrinology, Diabetes and Metabolism, medicine.disease_cause, Biochemistry, Diglycerides, chemistry.chemical_compound, Endocrinology, Tandem Mass Spectrometry, Genetics, medicine, Humans, Child, Molecular Biology, Arachidonic Acid, Infant, Newborn, Infant, Niemann-Pick Disease, Type C, Lipid metabolism, Lipid Metabolism, Pathophysiology, chemistry, Child, Preschool, Lipidomics, lipids (amino acids, peptides, and proteins), Arachidonic acid, Lactosylceramides, NPC1, Sphingomyelin, Intracellular, Oxidative stress, Chromatography, Liquid
-
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
-
7
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
-
8
المؤلفون: Antonella Mosca, Luca Dello Strologo, Carlo Dionisi-Vici, Sara Boenzi, Fiorella Piemonte, Manila Candusso, Giorgia Olivieri, Diego Martinelli, Cristiano Rizzo, Roberta Taurisano, Marco Spada, Giulio Catesini, Evelina Maines, A. Liguori, Arianna Maiorana
المصدر: Journal of Inherited Metabolic Disease. 43:1173-1185
مصطلحات موضوعية: Male, medicine.medical_specialty, Propionic Acidemia, Adolescent, medicine.medical_treatment, Methylmalonic acid, Methylmalonic acidemia, Liver transplantation, Gastroenterology, Young Adult, 03 medical and health sciences, chemistry.chemical_compound, Predictive Value of Tests, Internal medicine, Genetics, medicine, Humans, Citrates, Propionic acidemia, Child, Amino Acid Metabolism, Inborn Errors, Genetics (clinical), Kidney transplantation, 030304 developmental biology, 0303 health sciences, Newborn screening, business.industry, Standard treatment, 030305 genetics & heredity, Infant, Organ Transplantation, medicine.disease, Fibroblast Growth Factors, Transplantation, chemistry, Child, Preschool, Female, business, Biomarkers, Follow-Up Studies, Methylmalonic Acid
-
9The contribution of plasma oxysterols in the challenging diagnostic work-up of infantile cholestasis
المؤلفون: Elisa Sacchetti, Andrea Pietrobattista, Antonella Mosca, Sara Boenzi, Silvio Veraldi, Tommaso Alterio, Federica Deodato, Manila Candusso, Maria Sole Basso, Carlo Dionisi-Vici, Claudia Della Corte, Daniela Liccardo, Giulio Catesini
المصدر: Clinica Chimica Acta. 507:181-186
مصطلحات موضوعية: Male, 0301 basic medicine, medicine.medical_specialty, Bilirubin, Clinical Biochemistry, Biochemistry, Gastroenterology, 03 medical and health sciences, chemistry.chemical_compound, 0302 clinical medicine, Cholestasis, Internal medicine, Humans, Medicine, Retrospective Studies, business.industry, Cholesterol, Niemann-Pick disease type C, Biochemistry (medical), Infant, Oxysterols, General Medicine, Plasma levels, Infantile cholestasis, medicine.disease, Work-up, Female, 030104 developmental biology, Linear relationship, chemistry, 030220 oncology & carcinogenesis, Etiology, lipids (amino acids, peptides, and proteins), Differential diagnosis, business
-
10
المؤلفون: Giacomo Antonetti, Diego Martinelli, Daria Diodato, Giulio Catesini, Rosalba Carrozzo, Cristiano Rizzo, Carlo Dionisi-Vici, Michela Semeraro, Giorgia Olivieri, Sara Boenzi, Elisa Sacchetti
المصدر: Clinica Chimica Acta. 481:156-160
مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Mitochondrial DNA, Mitochondrial Diseases, Adolescent, Urinary system, Clinical Biochemistry, Hydroxybutyrates, Kearns-Sayre Syndrome, Urine, Disease, DNA, Mitochondrial, Biochemistry, Lipid Metabolism, Inborn Errors, Glutarates, Kearns–Sayre syndrome, 03 medical and health sciences, Fumarates, Muscular Diseases, Internal medicine, Pyruvic Acid, Valerates, medicine, Congenital Bone Marrow Failure Syndromes, Humans, Lactic Acid, Child, Retrospective Studies, chemistry.chemical_classification, 3-Hydroxybutyric Acid, business.industry, Acyl-CoA Dehydrogenase, Long-Chain, Biochemistry (medical), Infant, General Medicine, medicine.disease, Phenotype, 030104 developmental biology, Endocrinology, chemistry, Child, Preschool, Differential diagnosis, business, Organic acid