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Titolo Data di pubblicazione Autore(i) File
A COMPARISON BETWEEN SIMPLE PHE AND COMBINED PHE+BH4 LOADING TEST IN PHENYLKETONURIA 2006 PORTA F; ALLUTO A; MUSSA A; SPADA M; A. PONZONE
Image diagnosis in McCune-Albright syndrome 2006 Defilippi, Claudio; Chiappetta, Domenico; Marzari, Daniela; Mussa, Alessandro; Lala, Roberto
[Congenital hypopituitarism in agenesis of the anterior pituitary gland: immediate management and follow-up]. 2006 Mussa A;Porta F;Baldassarre G;Corrias A;Bellone J;de Sanctis C
Bone alterations in children and young adults with renal transplant assessed by phalangeal quantitative ultrasound. 2007 Mussa, Alessandro; Porta, Francesco; Gianoglio, Bruno; Gaido, Maurizio; Nicolosi, Mario Guido; De Terlizzi, Francesca; de Sanctis, Carlo; Coppo, Rosanna
Analisi molecolare e caratteristiche cliniche di 42 pazienti con sindrome di Beckwith e quadri correlati 2007 ferrero GB; Mussa A; Biamino E; Molinatto C; Pepe E; Bianchi M; Riccio A; Silengo M
Clinical and molecular characterization of a cohort of 49 children affected by Beckwith-Wiedemann Syndrome and related congenital defects 2008 Mussa A; Baldassarre G; Molinatto C; Peruzzi L; Pepe E; Riccio A; Cirillo Silengo M
Four new cases of PHACES syndrome: variable phenotypic expression and endocrinefeatures 2008 Mussa A; Baldassarre G; Rosaia De Santis L; Gastaldi R; Corrias A; Silengo MC.
Increased spontaneous osteoclastogenesis from peripheral blood mononuclear cells in phenylketonuria. 2008 Porta F; Roato I; Mussa A; Repici M; Gorassini E; Spada M; Ferracini R.
Thyroid nodules and cancer in children and adolescents affected by autoimmune thyroiditis 2008 Corrias, Andrea; Cassio, Alessandra; Weber, Giovanna; Mussa, Alessandro; Wasniewska, Malgorzata; Rapa, Anna; Gastaldi, Roberto; Einaudi, Silvia; Baronio, Federico; Vigone, Maria Cristina; Messina, Maria Francesca; Bal, Milva; Bona, Gianni; De Sanctis, Carlo
Phalangeal quantitative ultrasound in children with phenylketonuria: a pilot study. 2008 Porta F; Spada M; Lala R; Mussa A.
Impact of neonatal protein metabolism and nutrition on screening for phenylketonuria. 2008 Ponzone A; Spada M; Roasio L; Porta F; Mussa A; Ferraris S
Congenital hypothyroidism, cerebellar atrophy and incomplete phenotipic expression of PHACES syndrome 2008 MUSSA A; CORRIAS A; BALDASSARRE G; BIAMINO E; CIRILLO M
Genotypic and phenotypic spectrum of 44 patients with Noonan syndrome 2009 Baldassarre G; Rossi C; Chiesa N; Mussa A; Marinosci A; Tartaglia M; Silengo M; Ferrero GB
In response to van Spronsen et al (2009) phenylalanine tolerance can already reliably be assessed at the age of 2 years in patients with PKU (J Inherit Metab Dis 32: 27-31). 2009 Ponzone A; Mussa A; Porta F.
Prospective evaluation of the natural course of idiopathic subclinical hypothyroidism in childhood and adolescence 2009 Wasniewska, Malgorzata; Salerno, Mariacarolina; Cassio, Alessandra; Corrias, Andrea; Aversa, Tommaso; Zirilli, Giuseppina; Capalbo, Donatella; Bal, Milva; Mussa, Alessandro; de Luca, Filippo
Sperm count of young men surgically treated for cryptorchidism in the first and second year of life: Fertility is better in children treated at a younger age 2009 Canavese, Ferdinando; Mussa, A.; Manenti, M.; Cortese, M.G.; Ferrero, L.; Tuli, G.; Macchieraldo, R.; Lala, R.
Dopamine agonists in 6-pyruvoyl tetrahydropterin synthase deficiency. 2009 Porta F; Mussa A; Concolino D; Spada M; Ponzone A.
A heritable cause of cleft lip and palate-Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 2010 Ferrero GB; Baldassarre G; Panza E; Valenzise M; Pippucci T; Mussa A; Pepe E; Seri M; Silengo MC
Diagnostic features of thyroid nodules in pediatrics 2010 Corrias, Andrea; Mussa, Alessandro; Baronio, Federico; Arrigo, Teresa; Salerno, Mariacarolina; Segni, Maria; Vigone, Maria Cristina; Gastaldi, Roberto; Zirilli, Giuseppa; Tuli, Gerdi; Beccaria, Luciano; Iughetti, Lorenzo; Einaudi, Silvia; Weber, Giovanna; De Luca, Filippo; Cassio, Alessandra
Bone impairment in phenylketonuria is characterized by circulating osteoclast precursors and activated T cell increase. 2010 Roato I; Porta F; Mussa A; D'Amico L; Fiore L; Garelli D; Spada M; Ferracini R.
Mostrati risultati da 1 a 20 di 149
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