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المؤلفون: Giuseppe Matarese, Daniela Melis, Claudia La Rocca, Mario Galgani, Francesco Perna, Veronica De Rosa, Generoso Andria, Giancarlo Parenti, Giorgia Minopoli, Fortunata Carbone
المساهمون: Melis, Daniela, Carbone, Fortunata, Minopoli, Giorgia, La Rocca, Claudia, Perna, Francesco, De Rosa, Veronica, Galgani, Mario, Andria, Generoso, Parenti, Giancarlo, Matarese, Giuseppe
المصدر: The Journal of immunology (1950) 198 (2017): 3803–3808. doi:10.4049/jimmunol.1601946
info:cnr-pdr/source/autori:Melis, Daniela; Carbone, Fortunata; Minopoli, Giorgia; La Rocca, Claudia; Perna, Francesco; De Rosa, Veronica; Galgani, Mario; Andria, Generoso; Parenti, Giancarlo; Matarese, Giuseppe/titolo:Cutting Edge: Increased Autoimmunity Risk in Glycogen Storage Disease Type 1b Is Associated with a Reduced Engagement of Glycolysis in T Cells and an Impaired Regulatory T Cell Function./doi:10.4049%2Fjimmunol.1601946/rivista:The Journal of immunology (1950)/anno:2017/pagina_da:3803/pagina_a:3808/intervallo_pagine:3803–3808/volume:198مصطلحات موضوعية: CD4-Positive T-Lymphocytes, Male, 0301 basic medicine, T-Lymphocytes, Autoimmunity, Glycogen Storage Disease Type I, T-Lymphocytes, Regulatory, Antiporters, chemistry.chemical_compound, 0302 clinical medicine, Receptors, Homeostasis, Immunology and Allergy, Glucose homeostasis, Glycogen storage disease, IL-2 receptor, Child, Glycogen storage disease type I, Glycogen, FOXP3, Forkhead Transcription Factors, hemic and immune systems, Regulatory, medicine.anatomical_structure, Antigen, Child, Preschool, Female, Increased Autoimmunity Risk, Disease Type 1b, Glycolysis, Impaired Regulatory T, Cell Function, Adult, medicine.medical_specialty, Adolescent, Monosaccharide Transport Proteins, Regulatory T cell, T cell, Immunology, Receptors, Antigen, T-Cell, chemical and pharmacologic phenomena, Biology, Young Adult, 03 medical and health sciences, Lymphopenia, Internal medicine, medicine, Humans, Preschool, Infant, T-Cell, medicine.disease, Mutation, 030104 developmental biology, Endocrinology, chemistry, Cutting Edge, 030215 immunology
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d5b5e21efd5331100bc9b4dbc31b3856
http://www.cnr.it/prodotto/i/369656 -
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المؤلفون: Angelo Benedetti, F. Balivo, Roberto Della Casa, Carlo Dionisi-Vici, Paola Marcolongo, Giancarlo Parenti, Giorgia Minopoli, Rossella Parini, Generoso Andria, Daniela Melis, S. Paci
المساهمون: Melis, D., Minopoli, G., Balivo, F., Marcolongo, P., Parini, R., Paci, S., Dionisi-Vici, C., Della Casa, R., Benedetti, A., Andria, G., Parenti, G.
المصدر: JIMD Reports ISBN: 9783662496671
مصطلحات موضوعية: medicine.medical_specialty, Antioxidant, Neutropenia, business.industry, medicine.medical_treatment, Vitamin E, IBD, macromolecular substances, medicine.disease, Gastroenterology, Article, Infection severity score, Internal medicine, Immunology, Glycogen Storage Disease Type Ib, medicine, Absolute neutrophil count, Neutrophil dysfunction, business
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c54eaf505a04f1d41b85912d0f406a7d
http://hdl.handle.net/11386/4760505 -
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المؤلفون: F. Balivo, Giancarlo Parenti, Mariacarolina Salerno, Giorgia Minopoli, A. Rossi, Roberto Della Casa, Daniela Melis, Generoso Andria
المساهمون: Melis, Daniela, DELLA CASA, Roberto, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo
المصدر: Italian Journal of Pediatrics
مصطلحات موضوعية: Male, Thyroiditis, Glycogen storage disease 1b, Time Factors, Glycogenolysis, Time Factor, Case Report, Endocrine System, Autoimmunity, Glycogen Storage Disease Type I, medicine.disease_cause, Inflammatory bowel disease, Follow-Up Studie, medicine, Humans, Glycogen storage disease, Glycogen storage disease type I, business.industry, Infant, medicine.disease, Immunology, Failure to thrive, Disease Progression, Growth hormone deficiency, medicine.symptom, business, Dyslipidemia, Follow-Up Studies, Human
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f804814e02d230b64402bc2637aac48c
http://hdl.handle.net/11588/614183 -
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المؤلفون: Maurizia Valli, Generoso Andria, V. M. Ginocchio, Giorgia Minopoli, Massimiliano Corradi, Gerarda Cappuccio, Daniela Melis
المساهمون: Melis, Daniela, Cappuccio, Gerarda, Ginocchio, Virginia Maria, Minopoli, Giorgia, Valli, Maurizia, Corradi, Massimiliano, Andria, Generoso
المصدر: Italian Journal of Pediatrics, Vol 38, Iss 1, p 65 (2012)
Italian Journal of Pediatricsمصطلحات موضوعية: Joint Instability, Joint hypermobility, medicine.medical_specialty, Aortic Valve Insufficiency, Case Report, Disease, Collagen Type I, Diagnosis, Differential, Tricuspid Valve Insufficiency, Internal medicine, Cardiac valve, Humans, Medicine, Macrocephaly, Enzyme Inhibitors, Child, Ehlers Danlos syndrome type VII B, Cardiac valve regurgitation, business.industry, Cardiac valve regurgitation KeyWords Plus:COLLAGEN, lcsh:RJ1-570, Mitral Valve Insufficiency, lcsh:Pediatrics, Exons, medicine.disease, Phenotype, Ehlers–Danlos syndrome, Author Keywords:Ehlers Danlos syndrome type VII B, FORM, Mutation, Skin Abnormalities, Cardiology, Ehlers-Danlos Syndrome, Female, medicine.symptom, Differential diagnosis, business, Mitral valve regurgitation, Follow-Up Studies
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المؤلفون: Mariacarolina Salerno, Daniela Melis, Maria Giuseppa Scala, Claudio Pignata, Nicola Improda, Giorgia Minopoli, Loredana Palamaro, Donatella Capalbo
المساهمون: Capalbo, Donatella, Scala, M. G., Melis, D., Minopoli, G., Improda, N, Palamaro, Loredana, Pignata, Claudio, Salerno, Mariacarolina
المصدر: Italian Journal of Pediatrics
مصطلحات موضوعية: Heart Defects, Congenital, medicine.medical_specialty, Mutation, Missense, Case Report, Growth hormone insensitivity, medicine.disease_cause, Short stature, Growth hormone deficiency, Diagnosis, Differential, GH insensitivity, Internal medicine, Clinical heterogeneity, medicine, Loose Anagen Hair Syndrome, Missense mutation, Humans, Child, Growth Disorders, Mutation, business.industry, Noonan Syndrome, Intracellular Signaling Peptides and Proteins, Syndrome, medicine.disease, Phenotype, Noonan-like Syndrome with loose anagen hair, Body Height, Endocrinology, Noonan syndrome, Female, medicine.symptom, business, Noonan like syndrome, Cognition Disorders, GHD, Biomarkers
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6b352855d4c7f29eb12fe6991e42dd21
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