Search Results - "Della Casa, Roberto"

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema‐like changes by Pichiecchio, Anna, Rossi, Marta, Cinnante, Claudia, Colafati, Giovanna Stefania, Icco, Roberto, Parini, Rossella, Menni, Francesca, Furlan, Francesca, Burlina, Alberto, Sacchini, Michele, Donati, Maria Alice, Fecarotta, Simona, Casa, Roberto Della, Deodato, Federica, Taurisano, Roberta, Rocco, Maja

“…ABSTRACT Introduction The aim of this study was to evaluate the muscle MRI pattern of 9 patients (median age: 6.5 ± 2.74 years) affected by classic…”
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Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel by Gragnaniello, Vincenza, Deodato, Federica, Gasperini, Serena, Donati, Maria Alice, Canessa, Clementina, Fecarotta, Simona, Pascarella, Antonia, Spadaro, Giuseppe, Concolino, Daniela, Burlina, Alberto, Parenti, Giancarlo, Strisciuglio, Pietro, Fiumara, Agata, Casa, Roberto Della

“…Classic infantile onset of Pompe disease (c-IOPD) leads to hypotonia and hypertrophic cardiomyopathy within the first days to weeks of life and, without…”
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Increased Prevalence of Thyroid Autoimmunity and Hypothyroidism in Patients with Glycogen Storage Disease Type I by Melis, Daniela, MD, PhD, Pivonello, Rosario, MD, PhD, Parenti, Giancarlo, MD, Casa, Roberto Della, MD, Salerno, Mariacarolina, MD, Lombardi, Gaetano, MD, PhD, Sebastio, Gianfranco, MD, Colao, Annamaria, MD, Andria, Generoso, MD

“…Objective To investigate the hypothalamus-pituitary-thyroid axis in patients with glycogen storage disease type 1(GSD1). Study design Ten patients with GSD1a,…”
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Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy by Parini, Rossella, De Lorenzo, Paola, Dardis, Andrea, Burlina, Alberto, Cassio, Alessandra, Cavarzere, Paolo, Concolino, Daniela, Della Casa, Roberto, Deodato, Federica, Donati, Maria Alice, Fiumara, Agata, Gasperini, Serena, Menni, Francesca, Pagliardini, Veronica, Sacchini, Michele, Spada, Marco, Taurisano, Roberta, Valsecchi, Maria Grazia, Di Rocco, Maja, Bembi, Bruno

“…Enzyme replacement therapy (ERT) has deeply modified the clinical history of Infantile Onset Pompe Disease (IOPD). However, its long-term effectiveness is…”
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microRNAs as biomarkers in Pompe disease by Tarallo, Antonietta, Carissimo, Annamaria, Gatto, Francesca, Nusco, Edoardo, Toscano, Antonio, Musumeci, Olimpia, Coletta, Marcella, Karali, Marianthi, Acampora, Emma, Damiano, Carla, Minopoli, Nadia, Fecarotta, Simona, Della Casa, Roberto, Mongini, Tiziana, Vercelli, Liliana, Santoro, Lucio, Ruggiero, Lucia, Deodato, Federica, Taurisano, Roberta, Bembi, Bruno, Dardis, Andrea, Banfi, Sandro, Pijnappel, WW Pim, van der Ploeg, Ans T, Parenti, Giancarlo

“…Purpose We studied microRNAs as potential biomarkers for Pompe disease. Methods We analyzed microRNA expression by small RNA-seq in tissues from the disease…”
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Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement by Rossi, Alessandro, Simeoli, Chiara, Salerno, Mariacarolina, Ferrigno, Rosario, Della Casa, Roberto, Colao, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo, Pivonello, Rosario, Melis, Daniela

“…Glycogen storage disease type I (GSDI) is an inborn error of carbohydrate metabolism caused by mutations of either the G6PC gene (GSDIa) or the SLC37A4 gene…”
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Pain and sleep disturbances in Rett syndrome and other neurodevelopmental disorders by Cappuccio, Gerarda, Bernardo, Pia, Raiano, Enza, Pinelli, Michele, Alagia, Marianna, Esposito, Marcello, Della Casa, Roberto, Strisciuglio, Pietro, Brunetti‐Pierri, Nicola, Bravaccio, Carmela

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A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment by Alessandrella, Annalisa, Della Casa, Roberto, Alessio, Maria, Puente Prieto, Jorge, Strisciuglio, Pietro, Melis, Daniela

“…Pachydermoperiostosis (PDP), otherwise known as primary hypertrophic osteoarthropathy, is characterized by digital clubbing, pachydermia and subperiosteal new…”
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Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience by Scala, Iris, Concolino, Daniela, Della Casa, Roberto, Nastasi, Anna, Ungaro, Carla, Paladino, Serena, Capaldo, Brunella, Ruoppolo, Margherita, Daniele, Aurora, Bonapace, Giuseppe, Strisciuglio, Pietro, Parenti, Giancarlo, Andria, Generoso

“…Phenylketonuria (PKU) is an autosomal recessive disorder caused by the deficiency of phenylalanine hydroxylase that catalyzes the conversion of phenylalanine…”
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Glycogen storage disease type Ia (GSDIa) but not Glycogen storage disease type Ib (GSDIb) is associated to an increased risk of metabolic syndrome: possible role of microsomal glucose 6-phosphate accumulation by Melis, Daniela, Rossi, Alessandro, Pivonello, Rosario, Salerno, Mariacarolina, Balivo, Francesca, Spadarella, Simona, Muscogiuri, Giovanna, Casa, Roberto Della, Formisano, Pietro, Andria, Generoso, Colao, Annamaria, Parenti, Giancarlo

“…In GSDIa, glucose 6-phosphate (G6P) accumulates in the endoplasmic reticulum (ER); in GSDIb, G6P levels are reduced in ER. G6P availability directly modulates…”
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The videofluoroscopic swallowing study shows a sustained improvement of dysphagia in children with Niemann-Pick disease type C after therapy with miglustat by Fecarotta, Simona, Amitrano, Michele, Romano, Alfonso, Della Casa, Roberto, Bruschini, Diana, Astarita, Luca, Parenti, Giancarlo, Andria, Generoso

“…Niemann–Pick disease type C (NPC) is a rare autosomal recessive lysosomal storage disorder characterized by defective intracellular lipid trafficking, with…”
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A rare case of hydrometrocolpos from persistent urogenital sinus in patient affected by adrenogenital syndrome by Simonetti, Igino, Trovato, Piero, Verde, Francesco, Tarotto, Luca, Della Casa, Roberto, Lonardo, Maria Concetta, Vallone, Gianfranco, Caprio, Maria Grazia

“…Persistent urogenital sinus (PUGS) is a congenital pathological condition characterized by an abnormal communication between the urethra and vagina, which has…”
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Involvement of endocrine system in a patient affected by glycogen storage disease 1b: speculation on the role of autoimmunity by Melis, Daniela, Della Casa, Roberto, Balivo, Francesca, Minopoli, Giorgia, Rossi, Alessandro, Salerno, Mariacarolina, Andria, Generoso, Parenti, Giancarlo

“…Glycogen storage disease type 1b (GSD1b) is an inherited metabolic defect of glycogenolysis and gluconeogenesis due to mutations of the SLC37A4 gene and to…”
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Mental retardation, congenital heart malformation, and myelodysplasia in a patient with a complex chromosomal rearrangement involving the critical region 21q22 by Melis, Daniela, Genesio, Rita, Cappuccio, Gerarda, MariaGinocchio, Virginia, Casa, Roberto Della, Menna, Giuseppe, Buffardi, Salvatore, Poggi, Vincenzo, Leszle, Anna, Imperati, Floriana, Carella, Massimo, Izzo, Antonella, Del Giudice, Ennio, Nitsch, Lucio, Andria, Generoso

“…The region 21q22 is considered crucial for the pathogenesis of both Down syndrome (DS) and the partial monosomy 21q syndrome. Haploinsufficiency of the RUNX‐1…”
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The Growth Hormone-Insulin-like Growth Factor Axis in Glycogen Storage Disease Type 1: Evidence of Different Growth Patterns and Insulin-like Growth Factor Levels in Patients with Glycogen Storage Disease Type 1a and 1b by Melis, Daniela, MD, PhD, Pivonello, Rosario, MD, PhD, Parenti, Giancarlo, MD, Della Casa, Roberto, MD, Salerno, Mariacarolina, MD, Balivo, Francesca, MD, Piccolo, Pasquale, PhD, Di Somma, Carolina, MD, Colao, Annamaria, MD, PhD, Andria, Generoso, MD, PhD

“…Objectives To investigate the growth hormone (GH)-insulin-like growth factor (IGF) system in patients with glycogen storage disease type 1 (GSD1). Study design…”
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Genotype/phenotype correlation in glycogen storage disease type 1b : a multicentre study and review of the literature by MELIS, Daniela, FULCERI, Rossella, BENEDETTI, Angelo, PARENTI, Giancarlo, MARCOLONGO, Paola, GATTI, Rosanna, PARINI, Rossella, RIVA, Enrica, DELLA CASA, Roberto, ZAMMARCHI, Enrico, ANDRIA, Generoso

“…We studied the genotype/phenotype correlation in a cohort of glycogen storage disease type (GSD) 1b patients. A total of 25 GSD1b patients, 13 females and 12…”
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A case of galactosemia misdiagnosed as cow's milk intolerance by Della Casa, Roberto, Ungaro, Carla, Acampora, Emma, Pignata, Claudio, Vajro, Pietro, Salerno, Mariacarolina, Santamaria, Francesca, Parenti, Giancarlo

“…We report on a female patient affected by galactosemia in whom the diagnosis was obscured by the concomitant presence of manifestations suggesting a cow's milk…”
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Sonic Hedgehog deletion and distal trisomy 3p in a patient with microphthalmia and microcephaly, lacking cerebral anomalies typical of holoprosencephaly by Ginocchio, Virginia M, De Brasi, Daniele, Genesio, Rita, Ciccone, Roberto, Gimelli, Stefania, Fimiani, Francesco, de Berardinis, Teresa, Nitsch, Lucio, Banfi, Sandro, Magli, Adriano, Della Casa, Roberto

“…Abstract About 20% of cases with 7q deletion syndrome is associated with holoprosencephaly (HPE), due to deletion of the Sonic Hedgehog ( SHH ) gene (mapping…”
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Brain damage in glycogen storage disease type I by Melis, Daniela, Parenti, Giancarlo, Casa, Roberto Della, Sibilio, Michelina, Romano, Alfonso, Di Salle, Francesco, Elefante, Raffaele, Mansi, Giuseppina, Santoro, Lucio, Perretti, Anna, Paludetto, Roberto, Sequino, Luigi, Andria, Generoso

“…To investigate brain morphology and function in patients with glycogen storage disease type I (GSDI). Nineteen patients (13 females and 6 males, aged 0.9-22.6…”
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Primary Pyomyositis in Children is No More a Rare Condition: Presentation of 2 Clinical Cases by Pedoto, Deianira, Diana, Alfredo, Pennacchio, Maria Laura, Paciello, Francesca, Quarantiello, Flavio, Della Casa, Roberto

“…Primary pyomyositis is a bacterial muscle infection which may lead to abscess formation and severe complications. Although this condition has long been…”
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