Zobrazeno 1 - 10
of 123
pro vyhledávání: '"Assunto A"'
Autor:
Ursula Pia Ferrara, Cristina Tortora, Carmen Rosano, Antonia Assunto, Alessandro Rossi, Stefano Pagano, Mariateresa Falco, Chiara Simeoli, Rosario Ferrigno, Alessandra D’Amico, Dario Di Salvio, Giuliana Cangemi, Rosario Pivonello, Pietro Strisciuglio, Daniela Melis
Publikováno v:
Scientific Reports, Vol 12, Iss 1, Pp 1-9 (2022)
Abstract Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral metabolism in children and adults NF1 patients, to determine the relevant factors potent
Externí odkaz:
https://doaj.org/article/76fc759798784ef096125f852a0de767
Autor:
Francesca Di Candia, Valeria Marchetti, Ferdinando Cirillo, Alessandro Di Minno, Carmen Rosano, Stefano Pagano, Maria Anna Siano, Mariateresa Falco, Antonia Assunto, Giovanni Boccia, Gerardo Magliacane, Valentina Pinna, Alessandro De Luca, Marco Tartaglia, Giovanni Di Minno, Pietro Strisciuglio, Daniela Melis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 16, Iss 1, Pp 1-7 (2021)
Abstract Background Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We aimed to characterize the frequency and types of bleeding disorders in
Externí odkaz:
https://doaj.org/article/d2b501bb28264f1d99b6e475cf978331
Autor:
Roberta Resaz, Federica Raggi, Daniela Segalerba, Chiara Lavarello, Alessandra Gamberucci, Maria Carla Bosco, Simonetta Astigiano, Antonia Assunto, Daniela Melis, Mariavittoria D'Acierno, Maria Veiga-da-Cunha, Andrea Petretto, Paola Marcolongo, Francesco Trepiccione, Alessandra Eva
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 29, Iss , Pp 100813- (2021)
Glycogen Storage Disease type 1b (GSDIb) is a genetic disorder with long term severe complications. Accumulation of the glucose analog 1,5-anhydroglucitol-6-phosphate (1,5AG6P) in neutrophils inhibits the phosphorylation of glucose in these cells, ca
Externí odkaz:
https://doaj.org/article/a5b4910718f54bcb8377940c09b5b6ed
Akademický článek
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Autor:
Antonia Assunto, Ursula Ferrara, Alessandro De Luca, Claudia Pivonello, Lisa Lombardo, Annapina Piscitelli, Cristina Tortora, Valentina Pinna, Paola Daniele, Rosario Pivonello, Maria Giovanna Russo, Giuseppe Limongelli, Annamaria Colao, Marco Tartaglia, Pietro Strisciuglio, Daniela Melis
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-9 (2019)
Abstract Background Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the nature of the pathogenic NF1 gene mutations. A proposed model hypothesizes
Externí odkaz:
https://doaj.org/article/5c639a6a498f4a9192924c7c0741b664
Autor:
Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Additional file 6: Supplemental table 1. Clinical information of GSDIa patients.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67359f7143e4c5e8f44336becbb4985c
Autor:
Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Additional file 2: Supplemental figure 2. CPT1A expression in GSDIa childrenand pediatric controls. Each control had blood sampling under standard dietary regimen after the same fasting time of his/her age and sex matched patient. Mean value is shown
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::022b00a5357473758991c2a9e41f4f1d
Autor:
Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Additional file 5: Supplemental figure 5. Correlation between ACLY mRNA levels and serum ASTand ALT. *p< 0.05; **p< 0.01.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04abb2d11081c277e24a3d64807693aa
Autor:
Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Additional file 1: Supplemental figure 1. Study design and subjects. FAO: fatty acid oxidation; PBMC: peripheral blood mononuclear cells; TCA: tricarboxylic acid * GSDIa patients and C1.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5cc41c78a9db801f37025eac8922f889
Autor:
Rossi, Alessandro, Assunto, Antonia, Rosano, Carmen, Tucci, Sara, Ruoppolo, Margherita, Caterino, Marianna, Pirozzi, Francesca, Strisciuglio, Pietro, Parenti, Giancarlo, Melis, Daniela
Additional file 4: Supplemental figure 4. Correlation analysis in adult GSDIa patients.Correlation between VLCAD activity and waist circumferenceand BMI.Correlation between VLCAD activity and ACLY mRNA levels.Correlation between citrate synthase acti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2bc0899ece16bebc6e153b39f08c9334