COSTA, PAOLA

COSTA, PAOLA  

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Titolo Data di pubblicazione Autori File
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 1-gen-2020 Gianluca TorneseGiuseppa PattiMaria Chiara PellegrinPaola CostaFlavio FaletraEgidio Barbi +
GH Deficiency and Glucose 1 Transporter Deficiency Syndrome 1-gen-2015 Patti GTornese GCosta PVentura A. +
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 1-gen-2023 Di Stazio, MariateresaFaletra, FlavioMorgan, AnnaGirotto, GiorgiaCosta, PaolaCarrozzi, Marcod’Adamo, Adamo P. +
Paroxysmal awakenings and seizures in congenital hyperinsulinism: a late diagnosis 1-gen-2016 Paola CostaGianluca TorneseMarco Carrozzi +
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 1-gen-2022 Costa, PaolaFaletra, FlavioBianco, Anna M.La Bianca, MartinaAthanasakis, Emmanouild’Adamo, Adamo P.Carrozzi, MarcoGasparini, Paolo +
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 1-gen-2022 Faletra, FlavioMagnolato, AndreaLa Bianca, MartinaFeresin, AgneseGirotto, GiorgiaGasparini, PaoloCosta, PaolaCarrozzi, Marco +