Zobrazeno 1 - 3
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pro vyhledávání: '"Sara Gombos"'
Publikováno v:
Minerva anestesiologica. 85(7)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b5413bf3840dfde46073ab6a8f80595
https://pubmed.ncbi.nlm.nih.gov/31271023
https://pubmed.ncbi.nlm.nih.gov/31271023
Autor:
Emilia Iaccarino, Dario Iafusco, Sara Gombos, Nunzia Aragione, Pasquale Esposito, Maria Grazia Carbone, Alfonso Galderisi, Giuseppe De Bernardo, Francesco Prisco, Fabrizio Barbetti
Il leprecaunismo, patologia autosomica recessiva, mortale nel I anno di vita, dovuta a mutazioni nel gene del recettore insulinico, é considerato estremamente raro (1: 4.000.000 nati vivi) cio’ nonostante negli ultimi 2 anni, abbiamo potuto diagno
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______3977::cabed4756045f7d505a383d6c6eb8e39
http://hdl.handle.net/11591/435922
http://hdl.handle.net/11591/435922
Autor:
Franco Cerutti, Franco Meschi, C. Monciotti, Ivana Rabbone, Valeria Favalli, Alfonso Galderisi, C. Colombo, Riccardo Bonfanti, Ornella Massa, Dario Iafusco, Fabrizio Barbetti, Enzo Bonora, Sara Gombos, Valeria Grasso
Biallelic insulin receptor (INSR) gene mutations cause congenital syndromes of severe insulin resistance (SIR) known as Donohue syndrome (DS) and Rabson-Mendenhall syndrome (RMS). At presentation, DS and RMS are difficult to differentiate since they
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::969abf1d5992274eb8229cbd5ddefc76
http://hdl.handle.net/11577/3222615
http://hdl.handle.net/11577/3222615