Search Results - "Pietro Strisciuglio"

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy by Brunetti-Pierri, Nicola, Fecarotta, Simona, Staiano, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo

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Bone metabolism in patients with type 1 neurofibromatosis: key role of sun exposure and physical activity by Ferrara, Ursula Pia, Tortora, Cristina, Rosano, Carmen, Assunto, Antonia, Rossi, Alessandro, Pagano, Stefano, Falco, Mariateresa, Simeoli, Chiara, Ferrigno, Rosario, D’Amico, Alessandra, Di Salvio, Dario, Cangemi, Giuliana, Pivonello, Rosario, Strisciuglio, Pietro, Melis, Daniela

“…Bone metabolism has been rarely investigated in children affected by Neurofibromatosis type 1 (NF1). Aim of the present study was to assess bone mineral…”
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A specific serum lipid signature characterizes patients with glycogen storage disease type Ia by Rossi, Alessandro, Ruoppolo, Margherita, Fedele, Roberta, Pirozzi, Francesca, Rosano, Carmen, Auricchio, Renata, Melis, Daniela, Strisciuglio, Pietro, Oosterveer, Maaike H., Derks, Terry G.J., Parenti, Giancarlo, Caterino, Marianna

“…Glycogen storage disease type Ia (GSDIa) is a rare, inherited glucose-6-phosphatase-α (G6Pase-α) deficiency-induced carbohydrate metabolism disorder. Although…”
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Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS by Polo, Giulia, Burlina, Alessandro P, Kolamunnage, Thilini B, Zampieri, Michele, Dionisi-Vici, Carlo, Strisciuglio, Pietro, Zaninotto, Martina, Plebani, Mario, Burlina, Alberto B

“…Lysosphingolipids (LysoSLs) are derivatives of sphingolipids which have lost the amide-linked acyl chain. More recently, LysoSLs have been identified as…”
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Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria by Scala, Iris, Riccio, Maria Pia, Marino, Maria, Bravaccio, Carmela, Parenti, Giancarlo, Strisciuglio, Pietro

“…Phenylketonuria is an inborn error of phenylalanine (Phe) metabolism diagnosed by newborn screening and treated early with diet. Although diet prevents…”
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New Strategies for the Treatment of Phenylketonuria (PKU) by Strisciuglio, Pietro, Concolino, Daniela

“…Phenylketonuria (PKU) was the first inherited metabolic disease in which dietary treatment was found to prevent the disease's clinical features. Treatment of…”
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Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature by Di Candia, Francesca, Fontana, Paolo, Paglia, Pamela, Falco, Mariateresa, Rosano, Carmen, Piscopo, Carmelo, Cappuccio, Gerarda, Siano, Maria Anna, De Brasi, Daniele, Mandato, Claudia, De Maggio, Ilaria, Squeo, Gabriella Maria, Monica, Matteo Della, Scarano, Gioacchino, Lonardo, Fortunato, Strisciuglio, Pietro, Merla, Giuseppe, Melis, Daniela

“…Kabuki syndrome (KS) is a well-recognized disorder characterized by postnatal growth deficiency, dysmorphic facial features, skeletal anomalies, and…”
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Crohn disease-like enterocolitis remission after empagliflozin treatment in a child with glycogen storage disease type Ib: a case report by Rossi, Alessandro, Miele, Erasmo, Fecarotta, Simona, Veiga-da-Cunha, Maria, Martinelli, Massimo, Mollica, Carmine, D'Armiento, Maria, Mozzillo, Enza, Strisciuglio, Pietro, Derks, Terry G J, Staiano, Annamaria, Parenti, Giancarlo

“…Besides major clinical/biochemical features, neutropenia and inflammatory bowel disease (IBD) constitute common complications of Glycogen storage disease type…”
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Norrbottnian clinical variant of Gaucher disease in Southern Italy by Sestito, Simona, Filocamo, Mirella, Ceravolo, Ferdinando, Falvo, Francesca, Grisolia, Michele, Moricca, Maria Teresa, Cantaffa, Renato, Grossi, Serena, Strisciuglio, Pietro, Concolino, Daniela

“…The Norrbottnian type of Gaucher disease (GD), as described many years ago, is due to a unique neuronopathic variant (c.1448T>G; L444P) that may have appeared…”
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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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Isoform-specific NF1 mRNA levels correlate with disease severity in Neurofibromatosis type 1 by Assunto, Antonia, Ferrara, Ursula, De Luca, Alessandro, Pivonello, Claudia, Lombardo, Lisa, Piscitelli, Annapina, Tortora, Cristina, Pinna, Valentina, Daniele, Paola, Pivonello, Rosario, Russo, Maria Giovanna, Limongelli, Giuseppe, Colao, Annamaria, Tartaglia, Marco, Strisciuglio, Pietro, Melis, Daniela

“…Neurofibromatosis type 1 (NF1) is characterized by an extreme clinical variability both within and between families that cannot be explained solely by the…”
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RASopathies and hemostatic abnormalities: key role of platelet dysfunction by Di Candia, Francesca, Marchetti, Valeria, Cirillo, Ferdinando, Di Minno, Alessandro, Rosano, Carmen, Pagano, Stefano, Siano, Maria Anna, Falco, Mariateresa, Assunto, Antonia, Boccia, Giovanni, Magliacane, Gerardo, Pinna, Valentina, De Luca, Alessandro, Tartaglia, Marco, Di Minno, Giovanni, Strisciuglio, Pietro, Melis, Daniela

“…Bleeding anomalies have been reported in patients affected by Noonan syndrome. No study has been performed in patients with molecularly confirmed RASopathy. We…”
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Expanding the neurological and behavioral phenotype of White-Sutton syndrome: a case report by Donnarumma, Bernadette, Riccio, Maria Pia, Terrone, Gaetano, Palma, Melania, Strisciuglio, Pietro, Scala, Iris

“…Background White-Sutton (WHSUS) is a recently recognized syndrome caused by mutations of the POGZ gene. Approximately 70 patients have been reported to date…”
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MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion by Marsano, René Massimiliano, Rötig, Agnes, Calvo, Sarah, Fernandez-Vizarra, Erika, Sarzi, Emmanuelle, Donnini, Claudia, Chan, Alicia, Carrara, Franco, Strisciuglio, Pietro, Spinazzola, Antonella, Viscomi, Carlo, D'Adamo, Pio, Parini, Rossella, DiMauro, Salvatore, Mootha, Vamsi K, Ferrero, Iliana, Tiranti, Valeria, Weiher, Hans, Gasparini, Paolo, Zeviani, Massimo

“…The mitochondrial (mt) DNA depletion syndromes (MDDS) are genetic disorders characterized by a severe, tissue-specific decrease of mtDNA copy number, leading…”
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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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Parkinson's disease in Gaucher disease patients: what's changing in the counseling and management of patients and their relatives? by Di Rocco, Maja, Di Fonzo, Alessio, Barbato, Antonio, Cappellini, Maria Domenica, Carubbi, Francesca, Giona, Fiorina, Giuffrida, Gaetano, Linari, Silvia, Pession, Andrea, Quarta, Antonella, Scarpa, Maurizio, Spada, Marco, Strisciuglio, Pietro, Andria, Generoso

“…How to address the counseling of lifetime risk of developing Parkinson's disease in patients with Gaucher disease and their family members carrying a single…”
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Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria by Scala, Iris, Concolino, Daniela, Nastasi, Anna, Esposito, Giulia, Crisci, Daniela, Sestito, Simona, Ferraro, Stefania, Albano, Lucia, Ruoppolo, Margherita, Parenti, Giancarlo, Strisciuglio, Pietro

“…The mainstay of phenylketonuria treatment is a low protein diet, supplemented with phenylalanine (Phe)-free protein substitutes and micronutrients. Adhering to…”
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Epigallocatechin-3-Gallate Plus Omega-3 Restores the Mitochondrial Complex I and F0F1-ATP Synthase Activities in PBMCs of Young Children with Down Syndrome: A Pilot Study of Safety and Efficacy by Scala, Iris, Valenti, Daniela, Scotto D’Aniello, Valentina, Marino, Maria, Riccio, Maria Pia, Bravaccio, Carmela, Vacca, Rosa Anna, Strisciuglio, Pietro

“…Down syndrome (DS) is a major genetic cause of intellectual disability. DS pathogenesis has not been fully elucidated, and no specific pharmacological therapy…”
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Prevalence and Natural History of Gastroesophageal Reflux: Pediatric Prospective Survey by Campanozzi, Angelo, Boccia, Gabriella, Pensabene, Licia, Panetta, Fabio, Marseglia, Antonio, Strisciuglio, Pietro, Barbera, Cristiana, Magazzu, Giuseppe, Pettoello-Mantovani, Massimo, Staiano, Annamaria

“…The prevalence and natural history of gastroesophageal reflux in infants have been poorly documented. The aim of this study was to evaluate the prevalence and…”
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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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