Zobrazeno 1 - 10
of 110
pro vyhledávání: '"ORAZIO, GABRIELLI"'
Autor:
Simona Sestito, Giada Rinninella, Angelica Rampazzo, Francesca D’Avanzo, Lucia Zampini, Lucia Santoro, Orazio Gabrielli, Agata Fiumara, Rita Barone, Nicola Volpi, Maurizio Scarpa, Rosella Tomanin, Daniela Concolino
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-12 (2022)
Abstract Background Mucopolysaccharidoses (MPSs) are a group of lysosomal storage disorders caused by the deficit of lysosomal hydrolases involved in the degradation of glycosaminoglycans (GAGs). The course is chronic and progressive, with multisyste
Externí odkaz:
https://doaj.org/article/385edfbf75f64cfe8275dc6a89d9cb43
Autor:
Dorina Pjetraj, Lucia Santoro, Claudia Sgattoni, Lucia Padella, Lucia Zampini, Chiara Monachesi, Orazio Gabrielli, Carlo Catassi
Publikováno v:
American Journal of Medical Genetics Part A. 191:564-569
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::d3cadb391e5b91396c48a24c4bb07dd6
https://doi.org/10.1002/ajmg.a.63029
https://doi.org/10.1002/ajmg.a.63029
Autor:
Francesca Maccari, Laura Rigon, Veronica Mantovani, Fabio Galeotti, Marika Salvalaio, Francesca D’Avanzo, Alessandra Zanetti, Federica Capitani, Orazio Gabrielli, Rosella Tomanin, Nicola Volpi
Abstract Mucopolysaccharidosis type II (MPS II) is a neurometabolic disorder, due to the deficit of the lysosomal hydrolase iduronate 2-sulfatase (IDS). This leads to a severe clinical condition caused by a multi-organ accumulation of the glycosamino
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a54517bb2a52d9c9302dfb770f7a8a3b
https://hdl.handle.net/11380/1287532
https://hdl.handle.net/11380/1287532
Autor:
Albina Tummolo, Orazio Gabrielli, Alberto Gaeta, Maristella Masciopinto, Lucia Zampini, Luigi Michele Pavone, Paola Di Natale, Francesco Papadia
Publikováno v:
Case Reports in Medicine, Vol 2013 (2013)
Morquio A syndrome (Mucopolysaccharidosis type IVA) (MPS IVA) is a rare inherited metabolic disorder characterized by the defective degradation of keratan sulfate and chondroitin-6-sulfate. Classically, MPS IVA patients present with severe multisyste
Externí odkaz:
https://doaj.org/article/d6a17b9104ec4555813e1ac02515da83
Autor:
Chiara Monachesi, Francesca Maccari, Fabio Galeotti, Chiara Peila, Orazio Gabrielli, Alessandra Coscia, Giovanni V. Coppa, Lucia Zampini, Nicola Volpi
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 33:2131-2133
Objective: In this pilot study, we report the composition, structure and properties of glycosaminoglycans (GAG) present in milk samples of various countries and ethnicities.Methods: Fifty samples o...
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1e425d8336a9bbac17d3845a9262bd1c
https://doi.org/10.1080/14767058.2018.1539309
https://doi.org/10.1080/14767058.2018.1539309
Autor:
Luca Tiano, Gian Paolo Littarru, Patrick Orlando, Helle Kirstine Mørup Bergholdt, Orazio Gabrielli, Lucia Santoro, Lucia Padella, Emil List Larsen, Henrik E. Poulsen, Trine Henriksen
Publikováno v:
Neurobiology of Aging. 67:159-161
Elevated levels of oxidative nucleic acid modifications have been proposed to be associated with some of the clinical characteristics of Down syndrome. Oral intake of coenzyme Q10 improves oxidative status and shows a tendency toward protective effec
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::71e3fbe90fa49e68ee308bbcf91d37b4
https://doi.org/10.1016/j.neurobiolaging.2018.03.001
https://doi.org/10.1016/j.neurobiolaging.2018.03.001
Autor:
Chiara Monachesi, Lucia Santoro, Gloria Magi, Lucia Zampini, Orazio Gabrielli, Bruna Facinelli, Giovanni V. Coppa, Carlo Catassi, Emanuela Marini
Publikováno v:
The Journal of Maternal-Fetal & Neonatal Medicine. 32:2950-2952
Background: It is well known that human milk oligosaccharides play an important role as prebiotics, anti-inflammatory, and anti-infective agents. In the last few years, several studies have been performed using specific oligosaccharides, such as 2'-f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::f30cb98634692034b8668205ca0e8709
https://doi.org/10.1080/14767058.2018.1450864
https://doi.org/10.1080/14767058.2018.1450864
Autor:
Orazio Gabrielli, Daniela Concolino, Giovanni V. Coppa, Lucia Padella, Carlo Catassi, Rosella Tomanin, Lucia Santoro, Rita Lucia Marchesiello, Virgilio P. Carnielli, Enrico Gasparrini, Agata Fiumara, Lucia Zampini, Chiara Monachesi, Nicola Volpi, Tiziana Galeazzi
Publikováno v:
Clinica chimica acta; international journal of clinical chemistry. 486
Background In total, 930 urine samples obtained on 2nd and 3rd day from birth have been analyzed for the early diagnosis of Mucopolysaccharidoses. Methods Dimethylmethylene blue (DMB) assay and one-dimensional electrophoresis were performed in all ur
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3ce380691d91e2bbd11846a390628cd6
https://pubmed.ncbi.nlm.nih.gov/30110607
https://pubmed.ncbi.nlm.nih.gov/30110607
Autor:
Bruna, Facinelli, Emanuela, Marini, Gloria, Magi, Lucia, Zampini, Lucia, Santoro, Carlo, Catassi, Chiara, Monachesi, Orazio, Gabrielli, Giovanni V, Coppa
Publikováno v:
The journal of maternal-fetalneonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians. 32(17)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::e8cbbbe1fd3e0d40e3b5e8579f00371f
https://pubmed.ncbi.nlm.nih.gov/29562795
https://pubmed.ncbi.nlm.nih.gov/29562795
Autor:
Giovanni V. Coppa, Orazio Gabrielli, Daniela Concolino, Annarita Pittalà, Veronica Mantovani, Chiara Monachesi, Francesca Maccari, Lucia Padella, Elisa Pascale, Fabio Galeotti, Laura Rigon, Agata Fiumara, Rita Lucia Marchesiello, Tiziana Galeazzi, Lucia Zampini, Nicola Volpi
Dried blood spot (DBS) technology is a cheap and easy method largely applied in newborn screening. Mucopolysaccharidoses (MPS) are characterized by the deficit of enzymes that degrade glycosaminoglycans (GAGs) characterized by progressive worsening o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::54da4454329ca4309497d550d3eaa80a
https://hdl.handle.net/11380/1164782
https://hdl.handle.net/11380/1164782