Zobrazeno 1 - 7
of 7
pro vyhledávání: '"Romeo, Giusi"'
Autor:
Nicotera, Antonio Gennaro, Spoto, Giulia, Calì, Francesco, Romeo, Giusi, Musumeci, Antonino, Vinci, Mirella, Fiumara, Agata, Barone, Rita, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino
Publikováno v:
Mol Syndromol
Congenital disorders of glycosylation (CDG) are a group of rare genetic diseases caused by the deficiency of enzymes involved in the biosynthesis or remodeling of the glycan moieties of glycoconjugates. Most of CDG are autosomal recessive; however, f
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::190ae3749348a72ad007845d508b3ca0
http://hdl.handle.net/20.500.11769/513443
http://hdl.handle.net/20.500.11769/513443
Autor:
Nicotera, Antonio Gennaro, Spoto, Giulia, Calì, Francesco, Romeo, Giusi, Musumeci, Antonino, Vinci, Mirella, Fiumara, Agata, Barone, Rita, Di Rosa, Gabriella, Musumeci, Sebastiano Antonino
Publikováno v:
Molecular Syndromology; August 2021, Vol. 12 Issue: 5 p327-332, 6p
Akademický článek
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Akademický článek
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Autor:
Falsaperla, Raffaele, Romeo, Giusi, Di Giorgio, Angelo, Pavone, Piero, Parano, Enrico, Connolly, Anne M.
Publikováno v:
Journal of Child Neurology; Dec2001, Vol. 16 Issue 12, p934, 3p, 1 Black and White Photograph
Autor:
Nicotera AG; Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Messina, Italy., Spoto G; Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Messina, Italy., Calì F; Oasi Research Institute - IRCCS, Troina, Italy., Romeo G; Oasi Research Institute - IRCCS, Troina, Italy., Musumeci A; Oasi Research Institute - IRCCS, Troina, Italy., Vinci M; Oasi Research Institute - IRCCS, Troina, Italy., Fiumara A; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy., Barone R; Department of Clinical and Experimental Medicine, Regional Referral Center for Inborn Errors Metabolism, Pediatric Clinic, University of Catania, Catania, Italy., Di Rosa G; Unit of Child Neurology and Psychiatry, Department of Human Pathology in Adult and Developmental Age 'Gaetano Barresi', University of Messina, Messina, Italy., Musumeci SA; Oasi Research Institute - IRCCS, Troina, Italy.
Publikováno v:
Molecular syndromology [Mol Syndromol] 2021 Aug; Vol. 12 (5), pp. 327-332. Date of Electronic Publication: 2021 Jul 20.
Autor:
Falsaperla R; Department of Pediatrics and Pediatric Neurology, Azienda Policlinico, University of Catania, Italy., Romeo G, Sorge A, Bianchini R, DiGiorgio A, Trigilia T, Mattina T, Connolly AM
Publikováno v:
Journal of child neurology [J Child Neurol] 2003 Jan; Vol. 18 (1), pp. 79-81.