Zobrazeno 1 - 10
of 28
pro vyhledávání: '"F. Santus"'
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
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::db946d0554072fd22d3979475023f795
https://doi.org/10.1111/cge.12261
https://doi.org/10.1111/cge.12261
Autor:
Francesco Canonico, Alice Todeschini, Alessandro Padovani, Giovanna Lucchini, Fabio Pavan, F Santus, Rossella Parini, Massimiliano Filosto, Giuliano Tomelleri, Attilio Rovelli, Valentina Vielmi, Mauro Scarpelli, Paola Tonin, Maria Alice Donati, Maria Cotelli
Publikováno v:
Journal of neurology. 259(12)
Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE) is an autosomal recessive disorder caused by mutations in the gene encoding thymidine phosphorylase (TP). Allogeneic hematopoietic stem cell transplantation (HSCT) has been proposed as a t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::00b111bf10a0e3f1dc5871562dd08cfc
https://pubmed.ncbi.nlm.nih.gov/22711161
https://pubmed.ncbi.nlm.nih.gov/22711161
Autor:
Amelia Morrone, R Di Vito, R Ravaglia, Daniela Concolino, Pietro Strisciuglio, P De Lorenzo, Roberta Ricci, Francesca Furlan, G Valsecchi, Miriam Rigoldi, Sandro Feriozzi, F Santus, Rossella Parini
Anderson-Fabry disease (AFD) is a rare X-linked disorder caused by lysosomal storage of several glycosphingolipids, affecting virtually all organs and systems. Enzyme replacement therapy (ERT) for AFD has been available since 2001. Due to the highly
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a1b7ad361a4b287633c2232242b31831
http://hdl.handle.net/11588/344908
http://hdl.handle.net/11588/344908
Autor:
Uma Ramaswami, F Santus, Mathias Beck, J A Leon Leal, Catharina Whybra, Susanne Wendt, Rossella Parini, Guillem Pintos-Morell
Publikováno v:
Acta paediatrica (Oslo, Norway : 1992). 96(1)
Aim: To assess the effects of enzyme replacement therapy (ERT) in children with Fabry disease. Methods: Safety and efficacy of ERT with agalsidase alfa, 0.2 mg/kg infused over 40 minutes every 2 weeks for 23 weeks, were studied in a multicentre open-
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5880675f60fa133226b2fbd0ff74c81
https://pubmed.ncbi.nlm.nih.gov/17187618
https://pubmed.ncbi.nlm.nih.gov/17187618
Autor:
F. Santus, Francesca Menni, René Santer, E. Vismara, Rossella Parini, Francesca Furlan, Giovanna Sersale
Publikováno v:
Journal of Inherited Metabolic Disease. 29:685-685
A patient with early bilateral nuclear cataracts and subsequent diagnosis of Fanconi-Bickel syndrome is described. Despite impaired galactose and glucose metabolism, cataracts have been reported in only few cases with this disorder. We conclude that
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67d9a244bd33adfccbaa7281b40ff214
https://doi.org/10.1007/s10545-006-0385-x
https://doi.org/10.1007/s10545-006-0385-x
Autor:
A. Gamba, L Tedesco, G Sersale, F. Santus, Miriam Rigoldi, F Cichello, F Furlan, Rossella Parini, F Menni
Publikováno v:
Pediatric Research. 58:403-403
Aims: Evaluation of the effects of alfa-L iduronidase in 6 Italian MPS I patients. Patients and Methods: 6 pts (2 MPS IH/S and 4 MPS IS) mean age 24 yrs (range 11–38 yrs) received ERT 100 U/kg/week for 18.7 month mean (range 4–33 ms). We tested u
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::9c922615cbc326486f31aef735336948
https://doi.org/10.1203/00006450-200508000-00312
https://doi.org/10.1203/00006450-200508000-00312
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