Zobrazeno 1 - 10
of 692
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:
Karlsen, Johanne Hermann1,2,3 (AUTHOR) jools@rn.dk, Jørgensen, Kirstine Hermann4,5 (AUTHOR), Weinreich, Ulla Møller1,2 (AUTHOR)
Publikováno v:
Systematic Reviews. 12/4/2024, Vol. 13 Issue 1, p1-19. 19p.
Autor:
Ayalew, Wondossen1,2,3,4 (AUTHOR), Xiaoyun, Wu1,2 (AUTHOR) wuxiaoyun@caas.cn, Tarekegn, Getinet Mekuriaw3,5 (AUTHOR) getinet.tarekegn@sruc.ac.uk, Tessema, Tesfaye Sisay3 (AUTHOR), Chu, Min1,2 (AUTHOR), Liang, Chunnian1,2 (AUTHOR), Naboulsi, Rakan6 (AUTHOR), Van Damme, Renaud7 (AUTHOR), Bongcam-Rudloff, Erik7 (AUTHOR), Ping, Yan1,2,8 (AUTHOR) pingyanlz@163.com
Publikováno v:
BMC Genomics. 11/15/2024, Vol. 25 Issue 1, p1-14. 14p.
Autor:
Nekoui, Mahdiar1 (AUTHOR) mnekoui@exo.inc, Seyed Bolouri, Seyed Ehsan1 (AUTHOR), Forouzandeh, Amir1 (AUTHOR), Dehghan, Masood1 (AUTHOR), Zonoobi, Dornoosh1 (AUTHOR), Jaremko, Jacob L.2 (AUTHOR), Buchanan, Brian3 (AUTHOR), Nagdev, Arun4 (AUTHOR), Kapur, Jeevesh5 (AUTHOR)
Publikováno v:
Diagnostics (2075-4418). Nov2024, Vol. 14 Issue 22, p2526. 10p.
Autor:
Moretta, Pasquale1 (AUTHOR) nicoladavide.cavallo@unicampania.it, Cavallo, Nicola Davide1,2 (AUTHOR) gabriella.santangelo@unicampania.it, Candia, Claudio3 (AUTHOR) claudio.candia@icsmaugeri.it, Lanzillo, Anna3 (AUTHOR) anna.lanzillo@icsmaugeri.it, Marcuccio, Giuseppina3 (AUTHOR) giuseppina.marcuccio@icsmaugeri.it, Santangelo, Gabriella2 (AUTHOR), Marcuccio, Laura1 (AUTHOR), Ambrosino, Pasquale4 (AUTHOR) pasquale.ambrosino@icsmaugeri.it, Maniscalco, Mauro3 (AUTHOR) mauro.maniscalco@icsmaugeri.it
Publikováno v:
Journal of Clinical Medicine. Nov2024, Vol. 13 Issue 21, p6418. 18p.
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:
Pirera, Edoardo1 (AUTHOR), Di Raimondo, Domenico1 (AUTHOR) domenico.diraimondo@unipa.it, Tuttolomondo, Antonino1 (AUTHOR) edoardo.pirera@unipa.it
Publikováno v:
Journal of Clinical Medicine. Oct2024, Vol. 13 Issue 20, p6199. 16p.
Autor:
Fantin, Alberto1,2 (AUTHOR) alberto.fantin@asufc.sanita.fvg.it, Castaldo, Nadia1 (AUTHOR), Crisafulli, Ernesto2 (AUTHOR), Sartori, Giulia2 (AUTHOR), Villa, Alice2 (AUTHOR), Felici, Elide2 (AUTHOR), Kette, Stefano3 (AUTHOR), Patrucco, Filippo4 (AUTHOR), van der Heijden, Erik H. F. M.5 (AUTHOR), Vailati, Paolo1 (AUTHOR), Morana, Giuseppe1 (AUTHOR), Patruno, Vincenzo1 (AUTHOR)
Publikováno v:
Life (2075-1729). Oct2024, Vol. 14 Issue 10, p1291. 26p.
Autor:
Boccatonda, Andrea1,2 (AUTHOR) andrea.boccatonda2@unibo.it, D'Ardes, Damiano3 (AUTHOR) damiano.dardes@unich.it, Tallarico, Viola4 (AUTHOR) viola.tallarico@ausl.bo.it, Guagnano, Maria Teresa3 (AUTHOR) guagnano@unich.it, Cipollone, Francesco3 (AUTHOR) francesco.cipollone@unich.it, Schiavone, Cosima5 (AUTHOR) cosima.schiavone@gmail.com, Piscaglia, Fabio1,6 (AUTHOR), Serra, Carla2 (AUTHOR)
Publikováno v:
Journal of Clinical Medicine. Sep2024, Vol. 13 Issue 18, p5607. 20p.