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1دورية أكاديمية
المؤلفون: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Phenylketonuria, Quality of life, Follow-up, Psychology, Neurology, Brain magnetic resonance imaging, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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2دورية أكاديمية
المؤلفون: Arianna Maiorana, Stefania Caviglia, Benedetta Greco, Paolo Alfieri, Francesca Cumbo, Carmen Campana, Silvia Maria Bernabei, Raffaella Cusmai, Antonella Mosca, Carlo Dionisi-Vici
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
مصطلحات موضوعية: Hyperinsulinemic hypoglycemia, Ketogenic diet, Hypoglycemia, Neurodevelopment, Cognitive outcome, Epilepsy, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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3دورية أكاديمية
المؤلفون: Filippo Manti, Stefania Caviglia, Chiara Cazzorla, Annamaria Dicintio, Andrea Pilotto, Alessandro P. Burlina
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-1 (2023)
مصطلحات موضوعية: 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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المؤلفون: Carlo Dionisi-Vici, Antonella Mosca, Carmen Campana, Raffaella Cusmai, Francesca Cumbo, Benedetta Greco, S.M. Bernabei, Paolo Alfieri, Arianna Maiorana, Stefania Caviglia
المصدر: Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-10 (2021)
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Pediatrics, medicine.medical_specialty, medicine.medical_treatment, Recurrent hypoglycemia, Hyperinsulinemic hypoglycemia, Neurodevelopment, Hypoglycemia, medicine.disease_cause, Cognitive outcome, Epilepsy, Glucokinase, medicine, Humans, Pharmacology (medical), Child, Genetics (clinical), business.industry, Research, Neuroglycopenia, General Medicine, Ketogenic diet, medicine.disease, Treatment Outcome, Pharmaceutical Preparations, Pancreatectomy, Mutation, Quality of Life, Medicine, Congenital Hyperinsulinism, business, Energy source, Diet, Ketogenic
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المؤلفون: Rosanna Nicolò, S.M. Bernabei, Simona Cappelletti, Vincenzo Di Ciommo, Stefania Caviglia, Bianca Maria Goffredo, G. Cotugno
المصدر: Journal of Developmental & Behavioral Pediatrics. 34:392-398
مصطلحات موضوعية: Male, Pediatrics, medicine.medical_specialty, Adolescent, Phenylketonurias, Cross-sectional study, Intelligence, Child Behavior Disorders, Neuropsychological Tests, Developmental psychology, Executive Function, Tower of London test, Developmental and Educational Psychology, Humans, Medicine, Child, Child Behavior Checklist, Intelligence quotient, business.industry, Wechsler Scales, Wechsler Adult Intelligence Scale, Cognition, Executive functions, Psychiatry and Mental health, Cross-Sectional Studies, Child, Preschool, Pediatrics, Perinatology and Child Health, Female, Cognition Disorders, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0e1a60e2d560a17cc0bc7de6f57b2671
https://doi.org/10.1097/dbp.0b013e31829a79ef -
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المؤلفون: S.M. Bernabei, Carlo Dionisi-Vici, Fabrizio Barbetti, Giorgia Gallo, Stefania Caviglia, Arianna Maiorana, Raffaella Cusmai, Lucilla Manganozzi
المصدر: Orphanet Journal of Rare Diseases
مصطلحات موضوعية: medicine.medical_specialty, medicine.medical_treatment, Neurodevelopment, Hypoglycemia, Internal medicine, Diabetes mellitus, medicine, Humans, Genetics(clinical), Pharmacology (medical), Child, Genetics (clinical), Medicine(all), Settore MED/38 - Pediatria Generale e Specialistica, Epilepsy, biology, business.industry, Research, Neuroglycopenia, Glucose transporter, General Medicine, Ketogenic diet, medicine.disease, Treatment Outcome, Endocrinology, Brain Injuries, biology.protein, Congenital hyperinsulinism, Congenital Hyperinsulinism, Female, GLUT1, Diet, Ketogenic, business, Energy source
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8
المؤلفون: Alessandro Filla, Mirella Alpa, Agata Fiumara, G. Mansi, Ennio Del Giudice, Silvia Palmeri, Dario Roccatello, Giancarlo Parenti, Orazio Gabrielli, Antonio Federico, Adele D'Amico, Maja Di Rocco, Federica Deodato, Generoso Andria, Stefania Caviglia, Roberto Della Casa, Lucia Santoro, Alfonso Romano, Anna Ardissone, Cinzia Valeria Russo, Bruno Bembi, Carlo Dionisi-Vici, Diana Bruschini, Simona Fecarotta, Andrea Dardis, Graziella Uziel, Enrico Bertini
المساهمون: Fecarotta, Simona, Romano, Alfonso, DELLA CASA, Roberto, DEL GIUDICE, Ennio, Bruschini, Diana, Mansi, Giuseppina, Bembi, Bruno, Dardis, Andrea, Fiumara, Agata, Di Rocco, Maja, Uziel, Graziella, Ardissone, Anna, Roccatello, Dario, Alpa, Mirella, Bertini, Enrico, D'Amico, Adele, Dionisi Vici, Carlo, Deodato, Federica, Caviglia, Stefania, Federico, Antonio, Palmeri, Silvia, Gabrielli, Orazio, Santoro, Lucia, Filla, Alessandro, Russo, Cinzia, Parenti, Giancarlo, Andria, Generoso
المصدر: Europe PubMed Central
Orphanet Journal of Rare Diseasesمصطلحات موضوعية: Niemann-Pick disease type C, NPC, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Miglustat, NB-DNJ, Substrate reduction therapy, Treatment, Therapy, Adult, Male, Pediatrics, medicine.medical_specialty, 1-Deoxynojirimycin, Adolescent, Drug Administration Schedule, Young Adult, Dysarthria, Swallowing, Multicenter trial, Miglustat, medicine, Humans, NB-DNJ, Genetics(clinical), Pharmacology (medical), Enzyme Inhibitors, Young adult, Child, Niemann-Pick disease type C, NPC, Substrate reduction therapy, Treatment, Therapy, Genetics (clinical), Medicine(all), Dystonia, Niemann–Pick disease, type C, business.industry, Research, Infant, Niemann-Pick Disease, Type C, General Medicine, medicine.disease, Dysphagia, Italy, Child, Preschool, Female, medicine.symptom, business, medicine.drug
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a8b6b5a5a0686a4ef6f20d2e69189e08
http://hdl.handle.net/2318/1521415 -
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المؤلفون: Paola Bazzu, Federica Deodato, Stefania Caviglia, Roberta Taurisano, Ambra Bottari, Ilaria Tondo
المصدر: European Neuropsychopharmacology. 27:S379
مصطلحات موضوعية: Pharmacology, Adaptive behavior, medicine.medical_specialty, Pediatrics, education.field_of_study, Activities of daily living, Population, Late onset, Cognition, Vineland Adaptive Behavior Scale, Adaptive functioning, Psychiatry and Mental health, Neurology, Physical therapy, medicine, Pharmacology (medical), Neurology (clinical), Psychology, education, Biological Psychiatry, Pediatric population
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المؤلفون: Carlo Dionisi-Vici, Eugenio Mercuri, Daniela Ricci, Gessica Vasco, T. Randò, Marika Pane, Federica Deodato, Stefania Caviglia
المصدر: Neuropediatrics. 36(3)
مصطلحات موضوعية: medicine.medical_specialty, Pediatrics, Vision Disparity, genetic structures, media_common.quotation_subject, Visual impairment, Homocystinuria, Nystagmus, Motor Activity, Retina, Central nervous system disease, Child Development, Cognition, Oculomotor Nerve, medicine, Contrast (vision), Humans, Attention, Strabismus, Child, Vision, Ocular, media_common, business.industry, Infant, General Medicine, medicine.disease, eye diseases, Surgery, Methylmalonic aciduria, El Niño, Oculomotor Muscles, Child, Preschool, Pediatrics, Perinatology and Child Health, Neurology (clinical), medicine.symptom, business, Methylmalonic Acid
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::261e70fb0c5f0c5bbdb327921bda08e2
https://pubmed.ncbi.nlm.nih.gov/15944903
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