Search Results - "Greggio, Nella Augusta"

Primary Adrenal Insufficiency in Childhood: Data From a Large Nationwide Cohort by Capalbo, Donatella, Moracas, Cristina, Cappa, Marco, Balsamo, Antonio, Maghnie, Mohamad, Wasniewska, Malgorzata Gabriela, Greggio, Nella Augusta, Baronio, Federico, Bizzarri, Carla, Ferro, Giusy, Di Lascio, Alessandra, Stancampiano, Marianna Rita, Azzolini, Sara, Patti, Giuseppa, Longhi, Silvia, Valenzise, Mariella, Radetti, Giorgio, Betterle, Corrado, Russo, Gianni, Salerno, Mariacarolina

“…Abstract Context Primary adrenal insufficiency (PAI) is a rare and potentially life-threatening condition that is poorly characterized in children. Objective…”
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Delayed myelination is not a constant feature of Allan–Herndon–Dudley syndrome: Report of a new case and review of the literature by Azzolini, Sara, Nosadini, Margherita, Balzarin, Marta, Sartori, Stefano, Suppiej, Agnese, Mardari, Rodica, Greggio, Nella Augusta, Toldo, Irene

“…Abstract Introduction : Allan–Herndon–Dudley syndrome is an X-linked condition caused by mutations of the monocarboxylate transporter 8 gene. This syndrome is…”
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Ichthyosis and Kallmann syndrome: Not always a contiguous gene syndrome by Trevisson, Eva, Ludwig, Kathrin, Casarin, Alberto, Di Meglio, Annamaria, Greggio, Nella Augusta, Manara, Renzo, Lenzini, Elisabetta, Clementi, Maurizio, Salviati, Leonardo

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Brain involvement in Alström syndrome by Citton, Valentina, Favaro, Angela, Bettini, Vera, Gabrieli, Joseph, Milan, Gabriella, Greggio, Nella Augusta, Marshall, Jan D, Naggert, Jürgen K, Manara, Renzo, Maffei, Pietro

“…Alström Syndrome (AS) is a rare ciliopathy characterized by cone-rod retinal dystrophy, sensorineural hearing loss, obesity, type 2 diabetes mellitus and…”
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Subclinical hypothyroidism in paediatric population treated with levothyroxine: a real-world study on 2001–2014 Italian administrative data by Greggio, Nella Augusta, Rossi, Elisa, Calabria, Silvia, Meneghin, Alice, Gutierrez de Rubalcava, Joaquin, Piccinni, Carlo, Pedrini, Antonella

“…Objective To estimate the prevalence of subclinical hypothyroidism (SH) among children, by using levothyroxine low dosage as disease proxy, and to describe…”
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Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Ceccato, Filippo, Barbot, Mattia, Albiger, Nora, Zilio, Marialuisa, De Toni, Pietro, Luisetto, Giovanni, Zaninotto, Martina, Greggio, Nella Augusta, Boscaro, Marco, Scaroni, Carla, Camozzi, Valentina

“…Introduction Patients with 21-hydroxylase deficiency (21OHD) assume a lifelong glucocorticoid (GC) therapy. Excessive GC treatment increases the risk of…”
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Long-term glucocorticoid effect on bone mineral density in patients with congenital adrenal hyperplasia due to 21-hydroxylase deficiency by Ceccato, Filippo, Barbot, Mattia, Albiger, Nora, Zilio, Marialuisa, De Toni, Pietro, Luisetto, Giovanni, Zaninotto, Martina, Greggio, Nella Augusta, Boscaro, Marco, Scaroni, Carla, Camozzi, Valentina

“…Introduction Patients with 21-hydroxylase deficiency (21OHD) assume a lifelong glucocorticoid (GC) therapy. Excessive GC treatment increases the risk of…”
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Impact of Metabolic Control on Bone Quality in Phenylketonuria and Mild Hyperphenylalaninemia by Porta, Francesco, Mussa, Alessandro, Zanin, Anna, Greggio, Nella Augusta, Burlina, Alberto, Spada, Marco

“…ABSTRACT Objectives: A reduction of bone mineral density of unknown etiology has been reported in phenylketonuria (PKU) by radiological techniques, whereas no…”
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Novel non-classic CYP21A2 variants, including combined alleles, identified in patients with congenital adrenal hyperplasia by Karlsson, Leif, de Paula Michelatto, Débora, Lusa, Ana Letícia Gori, D'Almeida Mgnani Silva, Camila, Östberg, Linus J., Persson, Bengt, Guerra-Júnior, Gil, Valente de Lemos-Marini, Sofia Helena, Baldazzi, Lilia, Menabó, Soara, Balsamo, Antonio, Greggio, Nella Augusta, Palandi de Mello, Maricilda, Barbaro, Michela, Lajic, Svetlana

“…Congenital adrenal hyperplasia (CAH) is an inborn error of metabolism and a common disorder of sex development where >90% of all cases are due to…”
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Ichthyosis and Kallmann syndrome: not always a contiguous gene syndrome by Trevisson, Eva, Ludwig, Kathrin, Casarin, Alberto, Di Meglio, Annamaria, Greggio, Nella Augusta, Manara, Renzo, Lenzini, Elisabetta, Clementi, Maurizio, Salviati, Leonardo

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