Zobrazeno 1 - 10
of 150
pro vyhledávání: '"G. Torti"'
Autor:
D. Concolino, L. Amico, M.D. Cappellini, E. Cassinerio, M. Conti, M.A. Donati, F. Falvo, A. Fiumara, M. Maccarone, R. Manna, A. Matucci, M.B. Musumeci, A. Nicoletti, R. Nisticò, F. Papadia, R. Parini, D. Peluso, L. Pensabene, A. Pisani, G. Pistone, M. Rigoldi, I. Romani, M. Tenuta, G. Torti, M. Veroux, E. Zachara
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introducti
Externí odkaz:
https://doaj.org/article/ad9de0bfdba240b8916fa4e6bc3cc83d
Autor:
Andrea Matucci, Marcello Donati, Angela Nicoletti, Francesca Falvo, Maria Domenica Cappellini, Agata Fiumara, Miriam Rigoldi, Rossella Parini, Antonio Pisani, L Amico, Licia Pensabene, M Conti, G. Torti, Elisabetta Zachara, Daniela Concolino, M Maccarone, Elena Cassinerio, Rita Nisticò, Raffaele Manna, Daniele Peluso, I Romani, M Tenuta, Massimiliano Veroux, F. Papadia, M. B Musumeci, Giuseppe Pistone
Publikováno v:
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)
Molecular Genetics and Metabolism Reports, Vol 12, Iss C, Pp 85-91 (2017)
Fabry disease (FD) [OMIM 301500] is an X-linked lysosomal storage disorder caused by a deficiency of the lysosomal enzyme alpha-galactosidase A, resulting in progressive multisystem accumulation of globotriaosylceramide (Gb3). Although the introducti
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5bb33916fd4155cf72b5c401d8a99a01
http://hdl.handle.net/20.500.11769/307641
http://hdl.handle.net/20.500.11769/307641
Autor:
G. Torti, Rossella Parini, Miriam Rigoldi, Daniela Concolino, Pietro Strisciuglio, R Ravaglia, F Furlan, Federico Pieruzzi, Amelia Morrone, F Santus
Publikováno v:
Clinical Genetics. 86:258-263
We analysed the clinical history of 16 hemizygous males affected by Anderson-Fabry Disease, from four families, to verify their intrafamilial phenotypic variability. Seven male patients, ranging from 26 to 61 years of age, died, whereas nine (age ran
Akademický článek
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Publikováno v:
Zeitschrift für Naturforschung A. 52:130-132
A microwave adapter was fitted to a wax filled reducing wedge in order to transmit 8-12 GHz microwaves through a sub-wavelength rectangular opening. The configuration produced a 70 dB dynamic range and was found suitable for high resolution inspectio
Akademický článek
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Publikováno v:
Journal of the Optical Society of America A. 7:1745
The interaction of an optical beam with a traveling surface wave and a stationary holographic reference grating is studied theoretically and experimentally. The spatial phase modulation produced by the traveling wave results in an intensity modulatio
Publikováno v:
Journal of Plant Growth Regulation. 7:85-94
To investigate the presence of a possible synergistic effect of IAA and anaerobiosis on rice coleoptile elongation, excised coleoptiles grown in aerobic and anaerobic conditions were tested and compared with intact seedling aerial parts for response