المؤلفون: Giovanni Duro, Monia Anania, Carmela Zizzo, Daniele Francofonte, Irene Giacalone, Annalisa D’Errico, Emanuela Maria Marsana, Paolo Colomba

المصدر: International Journal of Molecular Sciences, Vol 25, Iss 10, p 5158 (2024)

مصطلحات موضوعية: Fabry disease, GLA gene, α-galactosidase A, LysoGb3, lyonization, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/25/10/5158; https://doaj.org/toc/1661-6596; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/c7ee227d6c6643f0b54a0cd312af4782

المؤلفون: Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci, Daniela Diomede, Gaetano Giuffrida, Laura Fiori, Chiara Montanari, Annamaria Sapuppo, Anna Rita Scortechini, Nicola Vitturi, Giovanni Duro, Carmela Zizzo

المصدر: Journal of Clinical Medicine, Vol 13, Iss 5, p 1487 (2024)

مصطلحات موضوعية: Gaucher disease, acid sphingomyelinase deficiency, ASMD, glucocerebrosidase, acid sphingomyelinase, differential diagnosis, Medicine

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2077-0383/13/5/1487; https://doaj.org/toc/2077-0383

URL الوصول: https://doaj.org/article/c59be1fbbdad4426af32d7d87099fe72

المؤلفون: Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte, Marcomaria Zora, Emanuela Maria Marsana, Giovanni Duro, Salvatore Corrao

المصدر: Biology, Vol 11, Iss 6, p 914 (2022)

مصطلحات موضوعية: Gaucher disease, hyperferritinemia, hemochromatosis, misdiagnosis, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2079-7737/11/6/914; https://doaj.org/toc/2079-7737

URL الوصول: https://doaj.org/article/02f9fa195e4d420195eecb892bbe18d9

المؤلفون: Carmela Zizzo, Alessandra Testa, Paolo Colomba, Maurizio Postorino, Giuseppe Natale, Alessandro Pini, Daniele Francofonte, Giuseppe Cammarata, Simone Scalia, Serafina Sciarrino, Carmine Zoccali, Giovanni Duro

المصدر: Kidney & Blood Pressure Research, Vol 43, Iss 4, Pp 1344-1351 (2018)

مصطلحات موضوعية: End stage renal disease, Fabry disease, P.I91T, GLA, Dermatology, RL1-803, Diseases of the circulatory (Cardiovascular) system, RC666-701, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://www.karger.com/Article/FullText/492593; https://doaj.org/toc/1420-4096; https://doaj.org/toc/1423-0143

URL الوصول: https://doaj.org/article/4019ee614b964b40bdec798a0c679e76

المؤلفون: Alessia Lo Curto, Simona Taverna, Maria Assunta Costa, Rosa Passantino, Giuseppa Augello, Giorgia Adamo, Anna Aiello, Paolo Colomba, Carmela Zizzo, Marco Zora, Giulia Accardi, Giuseppina Candore, Daniele Francofonte, Tiziana Di Chiara, Riccardo Alessandro, Calogero Caruso, Giovanni Duro, Giuseppe Cammarata

المصدر: Cells, Vol 10, Iss 2, p 356 (2021)

مصطلحات موضوعية: Fabry disease, microRNA, miR-126-3p, small extracellular vesicles, aging, senescence, Cytology, QH573-671

وصف الملف: electronic resource

Relation: https://www.mdpi.com/2073-4409/10/2/356; https://doaj.org/toc/2073-4409

URL الوصول: https://doaj.org/article/dd46536a03144ca6961649a8754ef272

المؤلفون: Giovanni Duro, Carmela Zizzo, Giuseppe Cammarata, Alessandro Burlina, Alberto Burlina, Giulia Polo, Simone Scalia, Roberta Oliveri, Serafina Sciarrino, Daniele Francofonte, Riccardo Alessandro, Antonio Pisani, Giuseppe Palladino, Rosa Napoletano, Maurizio Tenuta, Daniele Masarone, Giuseppe Limongelli, Eleonora Riccio, Andrea Frustaci, Cristina Chimenti, Claudio Ferri, Federico Pieruzzi, Maurizio Pieroni, Marco Spada, Cinzia Castana, Marina Caserta, Ines Monte, Margherita Stefania Rodolico, Sandro Feriozzi, Yuri Battaglia, Luisa Amico, Maria Angela Losi, Camillo Autore, Marco Lombardi, Carmine Zoccali, Alessandra Testa, Maurizio Postorino, Renzo Mignani, Elisabetta Zachara, Antonello Giordano, Paolo Colomba

المصدر: International Journal of Molecular Sciences, Vol 19, Iss 12, p 3726 (2018)

مصطلحات موضوعية: Fabry disease, GLA gene, LysoGb3, Biology (General), QH301-705.5, Chemistry, QD1-999

وصف الملف: electronic resource

Relation: https://www.mdpi.com/1422-0067/19/12/3726; https://doaj.org/toc/1422-0067

URL الوصول: https://doaj.org/article/ffce201584f64d689a7908d067fff010

المؤلفون: Paolo Colomba, Simone Scalia, Giuseppe Cammarata, Carmela Zizzo, Daniele Francofonte, Vincenzo Savica, Riccardo Alessandro, Francesco Iemolo, Giovanni Duro

المصدر: Cardiogenetics, Vol 5, Iss 1 (2015)

مصطلحات موضوعية: Anderson-Fabry disease, α-galactosidase A, GLA gene., Diseases of the circulatory (Cardiovascular) system, RC666-701

وصف الملف: electronic resource

Relation: http://www.pagepressjournals.org/index.php/cardiogen/article/view/5612; https://doaj.org/toc/2035-8253; https://doaj.org/toc/2035-8148

URL الوصول: https://doaj.org/article/637da5c20af3477e8b30f915fe8c8b01

المؤلفون: Paolo Colomba, Giuseppe Cammarata, Carmela Zizzo, Simone Scalia, Daniele Francofonte, Riccardo Alessandro, Emanuela Marsana, Lidia Consoli, Serena Guttadauria, Francesco Iemolo, Vincenzo Savica, Giovanni Duro

المصدر: Giornale di Clinica Nefrologia e Dialisi, Vol 27, Iss 2 (2015)

مصطلحات موضوعية: Anderson-Fabry disease, α-galactosidase A, GLA gene, Misdiagnosis, Internal medicine, RC31-1245, Diseases of the genitourinary system. Urology, RC870-923

وصف الملف: electronic resource

Relation: https://journals.aboutscience.eu/index.php/gcnd/article/view/800; https://doaj.org/toc/2705-0076

URL الوصول: https://doaj.org/article/6ac1ea2547934a83ba7a7b5533db1fc2

المؤلفون: Anna Aiello, Giulia Accardi, Giuseppina Candore, Riccardo Alessandro, Daniele Francofonte, Carmela Zizzo, Giuseppe Cammarata, Giorgia Adamo, Giovanni Duro, Paolo Colomba, Alessia Lo Curto, Rosa Passantino, Giuseppa Augello, Marco Zora, Tiziana Di Chiara, Calogero Caruso, Maria Assunta Costa, Simona Taverna

المساهمون: Lo Curto A., Taverna S., Costa M.A., Passantino R., Augello G., Adamo G., Aiello A., Colomba P., Zizzo C., Zora M., Accardi G., Candore G., Francofonte D., Di Chiara T., Alessandro R., Caruso C., Duro G., Cammarata G.

المصدر: Cells
Volume 10
Issue 2
Cells, Vol 10, Iss 356, p 356 (2021)
Cells (2021).
info:cnr-pdr/source/autori:Lo Curto A; Taverna S; Costa MA; Passantino R; Augello G; Adamo G; Aiello A ; Colomba P; Zizzo C; Zora M; Accardi G; Candore G; Francofonte D; Di Chiara T; Alessandro R; Caruso C; Duro G; Cammarata G;/titolo:Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease/doi:/rivista:Cells/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume

مصطلحات موضوعية: Senescence, Premature aging, Adult, Male, senescence, Adolescent, Population, small extracellular vesicles, Umbilical vein, Article, Andrology, Extracellular Vesicles, Young Adult, HUVEC, In vivo, small extracellular vesicle, Human Umbilical Vein Endothelial Cells, miR-126-3p, Medicine, Humans, education, lcsh:QH301-705.5, Cellular Senescence, Aged, Aged, 80 and over, Settore MED/04 - Patologia Generale, education.field_of_study, Sphingolipids, Fabry disease, microRNA, business.industry, aging, Aging, Premature, General Medicine, Middle Aged, medicine.disease, endothelial cells, MicroRNAs, lcsh:Biology (General), endothelial cell, Biomarker (medicine), Nanoparticles, Female, Glycolipids, business, Reactive Oxygen Species, Ex vivo, Biomarkers

وصف الملف: application/pdf

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dbb2dfa9a76392130429717a03c3a4b8

المؤلفون: Serafina Sciarrino, Silvia Vitale, Giuseppe Cammarata, Paolo Colomba, Marco Zora, Emanuela Maria Marsana, Carmela Zizzo, Roberta Olivieri, Simone Scalia, Daniele Francofonte, Chiara Brando, Simona Taverna, Giovanni Duro, Alessia Lo Curto

المصدر: Aging (N.Y.N.Y.) (2020).
info:cnr-pdr/source/autori:Simona Taverna; Giuseppe Cammarata; Paolo Colomba; Serafina Sciarrino; Carmela Zizzo; Daniele Francofonte; Marco Zora; Simone Scalia; Chiara Brando; Alessia Lo Curto; Emanuela Maria Marsana; Roberta Olivieri; Silvia Vitale; Giovanni Duro./titolo:Pompe disease: pathogenesis, molecular genetics and diagnosis/doi:/rivista:Aging (N.Y.N.Y.)/anno:2020/pagina_da:/pagina_a:/intervallo_pagine:/volume
Aging (Albany NY)

مصطلحات موضوعية: Aging, medicine.medical_specialty, acid alpha-1,4-glucosidase, Review, Disease, Pathogenesis, chemistry.chemical_compound, Molecular genetics, medicine, Autophagy, Humans, GAA, Glycogen, Glycogen Storage Disease Type II, business.industry, Muscle weakness, Pompe disease, Cell Biology, Phenotype, microRNAs, Chromosome 17 (human), chemistry, lysosomal storage disease, glycogen, Immunology, lysosomal storage disorder, medicine.symptom, business

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::858b60d30469953e27bbe2ab47c52fa5
https://publications.cnr.it/doc/426767