Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Andrea D. Praticò"'
Autor:
Andrea D. Praticò, Raffaele Falsaperla, Mattia Comella, Giuseppe Belfiore, Agata Polizzi, Martino Ruggieri
Publikováno v:
Frontiers in Pediatrics, Vol 11 (2023)
Mutations of TSC1 and TSC2 genes cause classical Tuberous Sclerosis Complex (TSC), a neurocutaneous disorder characterized by a tendency to develop hamartias, hamartomas, and other tumors. We herein report on a girl, now aged 5 years, who presented a
Externí odkaz:
https://doaj.org/article/94e20172177b49c6a7f638f1f07c40ba
Autor:
Piero Pavone, Raffaele Falsaperla, Massimo Barbagallo, Agata Polizzi, Andrea D. Praticò, Martino Ruggieri
Publikováno v:
Italian Journal of Pediatrics, Vol 43, Iss 1, Pp 1-6 (2017)
Abstract Background Woolly Hair is an uncommon congenital anomaly of the scalp hair presenting with strongly coiled hair involving a localized area of the scalp or covering the entire side and occurring in non-black people. Isolated or localized wool
Externí odkaz:
https://doaj.org/article/a6744a5db1834ca79743f9a65fd54db2
Autor:
Vito Pavone, Andrea D. Praticò, Rosario Caltabiano, Giuseppe Barbagallo, Raffaele Falsaperla, Piero Pavone, Saveria Spadola, Martino Ruggieri
Publikováno v:
Journal of Pediatric Surgery Case Reports, Vol 24, Iss , Pp 12-16 (2017)
Neurenteric cysts (NECs), also called enterogenous cysts or enterogenic cysts, are congenital malformative anomalies of endodermal origin that manifest with a variety of disorders, including spine anomalies. Neurenteric cysts are uncommon development
Externí odkaz:
https://doaj.org/article/c428388e238540199e401058f2348727
Autor:
Piero Pavone, Raffaele Falsaperla, Silvia Marino, Martino Ruggieri, Andrea D. Praticò, Beatrice Nardone
Publikováno v:
Pediatric Reports, Vol 11, Iss 2 (2019)
Congenital melanocytic nevi (CMN) are observed frequently in children. The anomalous skin shows a widely variable clinical expression not only in the anatomic location, but also in color, morphology and superficial structure. According to the width C
Externí odkaz:
https://doaj.org/article/41ac4fb2f0fd4b7b9d90cbf822a6b880
Autor:
Andrea D. Praticò, M.D., Elena R. Praticò, Novella Rotolo, Stefania Salafia, Chiara Franzonello, Salvatore Leonardi
Publikováno v:
Annals of Hepatology, Vol 14, Iss 6, Pp 933-936 (2015)
Today the knowledge of genotype-phenotype correlation in cystic fibrosis is enriched by the growing discoveries of new mutations of the CFTR gene. Although the combination of two severe mutations usually leads to the classic disease (pulmonary and pa
Externí odkaz:
https://doaj.org/article/c3d9517487474926a5c1fc678621b775
Publikováno v:
Journal of Pediatric and Neonatal Individualized Medicine, Vol 7, Iss 2, Pp e070221-e070221 (2018)
A 1-year-old infant was referred for a diagnostic work-up, due to a past history of generalized clonic seizures migrating from one side of the body to the other side, of short duration, and presenting in cluster, occurred in the first days of life. H
Externí odkaz:
https://doaj.org/article/830befd87dfa4dd0946a84333af48477
Autor:
Piero Pavone MD, Andrea D. Praticò MD, Giovanni Sorge MD, Concetta Meli MD, Martino Ruggieri MD, PhD, BA, Renata Rizzo MD, Agata Fiumara MD
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Objective: Hyperprolinemia type I (HPI) is a rare and inherited autosomal recessive disorder caused by proline oxidase deficiency. Hyperprolinemia type 1 is biochemically defined as high plasma proline levels without urinary Δ-1-pyrroline-5-carboxyl
Externí odkaz:
https://doaj.org/article/abaaa1a8bf524d6caa955fa5788a2ac1
Publikováno v:
Frontiers in Neurology, Vol 4 (2013)
Externí odkaz:
https://doaj.org/article/5c0754bd77914c2c83ed79410d791568
Autor:
Margherita Nosadini, Michael Eyre, Thea Giacomini, Massimiliano Valeriani, Marida Della Corte, Andrea D. Praticò, Pietro Annovazzi, Ramona Cordani, Duccio Maria Cordelli, Giovanni Crichiutti, Gabriella Di Rosa, Valentina Dolcemascolo, Anna Fetta, Elena Freri, Paolo Gallo, Matteo Gastaldi, Tiziana Granata, Luisa Grazian, Raffaele Iorio, Martina Lombardini, Monica Margoni, Sara Mariotto, Sara Matricardi, Federico Melani, Nardo Nardocci, Laura Papetti, Alice Passarini, Francesco Pisani, Chiara Po', Marco Puthenparampil, Francesca Ragona, Salvatore Savasta, Sabrina Siliquini, Irene Toldo, Alessandra Tozzo, Emanuela Claudia Turco, Antonio Varone, Alberto Vogrig, Luigi Zuliani, Samuela Bugin, Sara Rossato, Alessandro Orsini, Gaetano Cantalupo, Maria Margherita Mancardi, Michela Ada Noris Ferilli, Thomas Foiadelli, Stefano Sartori
Background and ObjectivesWe sought to identify early factors associated with relapse and outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).MethodsIn a multicenter retrospective cohort of pediatric M
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::121c56b1d1a53ec7ec33234f017e16b0
https://hdl.handle.net/11577/3466751
https://hdl.handle.net/11577/3466751
Autor:
Andrea D. Praticò
Publikováno v:
Journal of Pediatric Neurology. 21:145-145