Giulia Del Medico
YOU?
Author Swipe
View article: SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability
SAT-196 Noonan Syndrome: Genotype-Phenotype Correlations and Clinical Variability Open
Disclosure: G. Del Medico: None. E. Andreucci: None. S. Bargiacchi: None. G. Gori: None. G. Mancano: None. G. Traficante: None. F. Girolami: None. S. Favilli: None. A. Peron: None. I. Olivotto: None. M. Tartaglia: None. S. Stagi: None. Bac…
View article: Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes
Phosphomannomutase 2-congenital disorder of glycosylation: exploring the role of N-glycosylation on the endocrine axes Open
Congenital disorders of glycosylation (CDG) are a heterogeneous group of inborn errors of metabolism caused by impaired protein glycosylation. Among these, PMM2-CDG, caused by defective phosphomannomutase 2 activity and affecting protein N…
View article: Changes in Coping Strategies of Parents and Girls with Central Precocious Puberty Before and After the COVID-19 Lockdown: Data from Four Italian Pediatric Endocrinology Centers
Changes in Coping Strategies of Parents and Girls with Central Precocious Puberty Before and After the COVID-19 Lockdown: Data from Four Italian Pediatric Endocrinology Centers Open
The increased stress during the COVID-19 pandemic may have influenced the coping strategies used by children and parents who adapted to a diagnosis of central precocious puberty (CPP). This study aimed to explore whether the coping mechani…
View article: Use of burosumab in McCune Albright syndrome: case report and review of literature in mosaic disorders with FGF23 overproduction
Use of burosumab in McCune Albright syndrome: case report and review of literature in mosaic disorders with FGF23 overproduction Open
Increased fibroblast growth factor 23 (FGF23) related mosaic syndromes include a spectrum of disorders sharing postzygotic mutations, skin involvement and dysplastic bone lesions. This group encompasses both McCune Albright syndrome (MAS) …
View article: 8056 Burosumab Treatment In McCune Albright Syndrome: New Therapeutic Perspectives And Gaps To Be Filled
8056 Burosumab Treatment In McCune Albright Syndrome: New Therapeutic Perspectives And Gaps To Be Filled Open
Disclosure: A. Barbato: None. R. Vaiasuso: None. G. Del Medico: None. S. Stagi: None. Background: McCune Albright syndrome (MAS) is a sporadic genetic condition associated with bone dysplasia, multiple endocrine over-function, and café au …
View article: 8015 Growth Hormone Axis Dysfunction in PMM2-CDG: Exploring the Role of Dynamic Tests for the Management of Short Stature in Two Pediatric Cases
8015 Growth Hormone Axis Dysfunction in PMM2-CDG: Exploring the Role of Dynamic Tests for the Management of Short Stature in Two Pediatric Cases Open
Disclosure: G. Del Medico: None. E. Procopio: None. L. Ferri: None. A. Barbato: None. A. Morrone: None. S. Stagi: None. PMM2-CDG is the most prevalent congenital disorder of glycosylation (CDG) and is caused by defective phosphomannomutase…