Zobrazeno 1 - 10
of 53
pro vyhledávání: '"Daniela Antuzzi"'
Autor:
Elena Verrecchia, Daniela Antuzzi, Francesco De Vito, Manuel Soldato, Donato Rigante, Giovanni Gambaro, Raffaele Manna
Publikováno v:
Giornale di Clinica Nefrologia e Dialisi, Vol 29, Iss Suppl. 1 (2017)
Abstract non disponibile
Externí odkaz:
https://doaj.org/article/57fae505d3074547a75a7b854f87caae
Autor:
Francesca Graziani, Aureliano Ruggio, Antonio Iaconelli, Elena Verrecchia, Amelia Morrone, Daniela Antuzzi, Filippo Crea, Raffaele Manna
Publikováno v:
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 7 (2017)
Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipid
Externí odkaz:
https://doaj.org/article/93da89bb52a949938c6b83827b3675a9
Autor:
Giuseppe Merra, Antonio Dal Lago, Roberta Ricci, Daniela Antuzzi, Giovanni Gasbarrini, Antonio Gasbarrini, Giovanni Ghirlanda
Publikováno v:
Case Reports in Gastroenterology, Vol 2, Iss 3, Pp 474-478 (2008)
Gaucher disease is the most common lysosomal storage disease. It is caused by the defective activity of acid β-glucosidase, which results in the accumulation of lipid glucocerebroside in macrophages throughout the body. In this case report we descri
Externí odkaz:
https://doaj.org/article/f98226db39514151869e8185300740c7
Autor:
Anna Caciotti, Maja Di Rocco, Giulia Forni, Davide Mei, Angelica Rampazzo, Giancarlo la Marca, Rodolfo Tonin, Elena Procopio, Miriam Rigoldi, Antonio Andaloro, Renzo Guerrini, Amelia Morrone, Daniela Antuzzi, Lucrezia Cellai
Publikováno v:
Molecular Genetics and Metabolism. 132:180-188
Morquio B disease is an attenuated phenotype within the spectrum of beta galactosidase (GLB1) deficiencies. It is characterised by dysostosis multiplex, ligament laxity, mildly coarse facies and heart valve defects due to keratan sulphate accumulatio
Autor:
Angela Maria Di Francesco, Luca Richeldi, Raffaele Manna, Elena Verrecchia, Marcello Covino, Giuliana Pasciuto, Ludovico Luca Sicignano, Maria Grazia Massaro, Daniela Antuzzi
Publikováno v:
Journal of Clinical Medicine
Volume 10
Issue 22
Journal of Clinical Medicine, Vol 10, Iss 5283, p 5283 (2021)
Volume 10
Issue 22
Journal of Clinical Medicine, Vol 10, Iss 5283, p 5283 (2021)
Sarcoidosis is a multi-organ inflammatory granulomatosis with a lung-predominant involvement. The aim of this study was to investigate the use of serum chitotriosidase (CHIT1) in patients with fever of unknown origin (FUO)
the patients with conf
the patients with conf
Autor:
Elena Verrecchia, Gaia Bagordo, Amelia Morrone, Daniela Antuzzi, Renzo Mignani, Renzo Guerrini, Armando Filippini, Ilaria Donati, Catia Cavicchi, Antonella Fioravanti, Duccio Malesci, Lorenzo Ferri, Anna Ficcadenti, Raffaele Manna
Publikováno v:
Clinica Chimica Acta. 481:25-33
Background Allelic heterogeneity is an important feature of the GLA gene for which almost 900 known genetic variants have been discovered so far. Pathogenetic GLA variants cause alpha-galactosidase A (α-Gal A) enzyme deficiency leading to the X-link
Autor:
Elena Verrecchia, Daniela Antuzzi, Raffaele Manna, Filippo Crea, Francesca Graziani, Amelia Morrone, Antonio Iaconelli, Aureliano Ruggio
Publikováno v:
European Journal of Case Reports in Internal Medicine
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 7 (2017)
European Journal of Case Reports in Internal Medicine, Vol 4, Iss 7 (2017)
Anderson-Fabry’s disease (AFD) is a rare, X-linked lysosomal storage disorder caused by the complete deficiency or attenuated activity of the enzyme α-galactosidase A, leading to progressive systemic intracellular accumulation of glycosphingolipid
Autor:
Mirella Filocamo, Francesca Bertola, Maria Gnarra, Federica Giurdanella, Claudio Feliciani, Daniela Antuzzi, Susanna Lualdi, Luca Fania, Anna Zampetti, Amelia Morrone
Publikováno v:
Clinical Genetics. 84:281-285
Fabry disease (FD) is an X-linked lysosomal storage disorder (LSD) caused by the deficiency of the enzyme α-galactosidase. It exhibits a wide clinical spectrum that may lead to a delayed or even missed diagnosis and the real incidence can be underes