COSTA, PAOLA
COSTA, PAOLA
Collaboratori
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet
2020-01-01 Tornese, Gianluca; Patti, Giuseppa; Pellegrin, MARIA CHIARA; Costa, Paola; Faletra, Flavio; Faleschini, Elena; Barbi, Egidio
GH Deficiency and Glucose 1 Transporter Deficiency Syndrome
2015-01-01 Patti, G; Tornese, G; Costa, P; Faleschini, E; Ventura, A.
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders
2023-01-01 Di Stazio, Mariateresa; Zanus, Caterina; Faletra, Flavio; Pesaresi, Alessia; Ziccardi, Ilaria; Morgan, Anna; Girotto, Giorgia; Costa, Paola; Carrozzi, Marco; D’Adamo, Adamo P.; Musante, Luciana
Paroxysmal awakenings and seizures in congenital hyperinsulinism: a late diagnosis
2016-01-01 Zanus, Caterina; Costa, Paola; Tornese, Gianluca; Faleschini, Elena; Carrozzi, Marco
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge
2022-01-01 Musante, Luciana; Costa, Paola; Zanus, Caterina; Faletra, Flavio; Murru, Flora M.; Bianco, Anna M.; La Bianca, Martina; Ragusa, Giulia; Athanasakis, Emmanouil; D’Adamo, Adamo P.; Carrozzi, Marco; Gasparini, Paolo
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition
2022-01-01 Musante, Luciana; Faletra, Flavio; Meier, Kolja; Tomoum, Hoda; Najarzadeh Torbati, Paria; Blair, Edward; North, Sally; Gärtner, Jutta; Diegmann, Susann; Beiraghi Toosi, Mehran; Ashrafzadeh, Farah; Ghayoor Karimiani, Ehsan; Murphy, David; Murru, Flora Maria; Zanus, Caterina; Magnolato, Andrea; La Bianca, Martina; Feresin, Agnese; Girotto, Giorgia; Gasparini, Paolo; Costa, Paola; Carrozzi, Marco