Works matching AU Concolino, Daniela

Results: 40

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.

Published in:

2019

By:

Zanetti, Alessandra;
D'Avanzo, Francesca;
Rigon, Laura;
Rampazzo, Angelica;
Concolino, Daniela;
Barone, Rita;
Volpi, Nicola;
Santoro, Lucia;
Lualdi, Susanna;
Bertola, Francesca;
Scarpa, Maurizio;
Tomanin, Rosella

Publication type:

journal article

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 2, p. 239, doi. 10.1007/s00431-013-2151-z

By:

Ceravolo, Ferdinando;
Messina, Sonia;
Rodolico, Carmelo;
Strisciuglio, Pietro;
Concolino, Daniela

Publication type:

Article

Long-term follow-up of patients with phenylketonuria treated with tetrahydrobiopterin: a seven years experience.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0227-8

By:

Scala, Iris;
Concolino, Daniela;
Casa, Roberto Della;
Nastasi, Anna;
Ungaro, Carla;
Paladino, Serena;
Capaldo, Brunella;
Ruoppolo, Margherita;
Daniele, Aurora;
Bonapace, Giuseppe;
Strisciuglio, Pietro;
Parenti, Giancarlo;
Andria, Generoso

Publication type:

Article

DPM2-CDG: A muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy.

Published in:

Annals of Neurology, 2012, v. 72, n. 4, p. 550, doi. 10.1002/ana.23632

By:

Barone, Rita;
Aiello, Chiara;
Race, Valérie;
Morava, Eva;
Foulquier, Francois;
Riemersma, Moniek;
Passarelli, Chiara;
Concolino, Daniela;
Carella, Massimo;
Santorelli, Filippo;
Vleugels, Wendy;
Mercuri, Eugenio;
Garozzo, Domenico;
Sturiale, Luisa;
Messina, Sonia;
Jaeken, Jaak;
Fiumara, Agata;
Wevers, Ron A.;
Bertini, Enrico;
Matthijs, Gert

Publication type:

Article

Low FODMAPs diet for functional abdominal pain disorders in children: critical review of current knowledge.

Published in:

Jornal de Pediatria, 2019, v. 95, n. 6, p. 642, doi. 10.1016/j.jpedp.2019.05.019

By:

Pensabene, Licia;
Salvatore, Silvia;
Turco, Rossella;
Tarsitano, Flora;
Concolino, Daniela;
Baldassarre, Maria Elisabetta;
Borrelli, Osvaldo;
Thapar, Nikhil;
Vandenplas, Yvan;
Staiano, Annamaria;
Saps, Miguel

Publication type:

Article

Co-existence of Phenylketonuria and Fabry diseaseon a 3 year-old boy: case report.

Published in:

BMC Pediatrics, 2010, v. 10, p. 32, doi. 10.1186/1471-2431-10-32

By:

Concolino, Daniela;
Rapsomaniki, Maria;
Disabella, Eliana;
Sestito, Simona;
Pascale, Maria G.;
Moricca, Maria T.;
Bonapace, Giuseppe;
Arbustini, Elisea;
Strisciuglio, Pietro

Publication type:

Article

Brain and spine MRI features of Hunter disease: frequency, natural evolution and response to therapy.

Published in:

Journal of Inherited Metabolic Disease, 2011, v. 34, n. 3, p. 763, doi. 10.1007/s10545-011-9317-5

By:

Manara, Renzo;
Priante, Elena;
Grimaldi, Marco;
Santoro, Lucia;
Astarita, Luca;
Barone, Rita;
Concolino, Daniela;
Rocco, Maja;
Donati, Maria;
Fecarotta, Simona;
Ficcadenti, Anna;
Fiumara, Agata;
Furlan, Francesca;
Giovannini, Irene;
Lilliu, Franco;
Mardari, Rodica;
Polonara, Gabriele;
Procopio, Elena;
Rampazzo, Angelica;
Rossi, Andrea

Publication type:

Article

Parapelvic cysts, a distinguishing feature of renal Fabry disease.

Published in:

Nephrology Dialysis Transplantation, 2018, v. 33, n. 2, p. 318, doi. 10.1093/ndt/gfx009

By:

Pisani, Antonio;
Annicchiarico, Luigi Petruzzelli;
Pellegrino, Angela;
Bruzzese, Dario;
Feriozzi, Sandro;
Imbriaco, Massimo;
Tedeschi, Enrico;
Cocozza, Sirio;
De Rosa, Dario;
Mignani, Renzo;
Veroux, Massimiliano;
Battaglia, Yuri;
Concolino, Daniela;
Sestito, Simona;
Pieruzzi, Federico;
Caroti, Leonardo;
Manna, Raffaele;
Zizzo, Carmela;
Santangelo, Michele;
Sabbatini, Massimo

Publication type:

Article

Functional and morphological cardiovascular alterations associated with neurofibromatosis 1.

Published in:

Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68908-0

By:

Cutruzzolà, Antonio;
Irace, Concetta;
Frazzetto, Marco;
Sabatino, Jolanda;
Gullace, Rosa;
De Rosa, Salvatore;
Spaccarotella, Carmen;
Concolino, Daniela;
Indolfi, Ciro;
Gnasso, Agostino

Publication type:

Article

Screening for lysosomal diseases in a selected pediatric population: the case of Gaucher disease and acid sphingomyelinase deficiency.

Published in:

Orphanet Journal of Rare Diseases, 2023, v. 18, n. 1, p. 1, doi. 10.1186/s13023-023-02797-0

By:

Di Rocco, Maja;
Vici, Carlo Dionisi;
Burlina, Alberto;
Venturelli, Francesco;
Fiumara, Agata;
Fecarotta, Simona;
Donati, Maria Alice;
Spada, Marco;
Concolino, Daniela;
Pession, Andrea

Publication type:

Article

Successful management of neonatal renal venous thrombosis.

Published in:

Pediatrics International, 2014, v. 56, n. 5, p. e65, doi. 10.1111/ped.12453

By:

Piscitelli, Antonio;
Galiano, Rossella;
Piccolo, Vincenzo;
Concolino, Daniela;
Strisciuglio, Pietro

Publication type:

Article

Fabry disease and kidney involvement: starting from childhood to understand the future.

Published in:

Pediatric Nephrology, 2022, v. 37, n. 1, p. 95, doi. 10.1007/s00467-021-05076-x

By:

Chimenz, Roberto;
Chirico, Valeria;
Cuppari, Caterina;
Ceravolo, Giorgia;
Concolino, Daniela;
Monardo, Paolo;
Lacquaniti, Antonio

Publication type:

Article

Nutraceuticals and Pain Disorders of the Gut–Brain Interaction in Infants and Children: A Narrative Review and Practical Insights.

Published in:

Nutrients, 2024, v. 16, n. 3, p. 349, doi. 10.3390/nu16030349

By:

Salvatore, Silvia;
Carlino, Mariagrazia;
Sestito, Simona;
Concolino, Daniela;
Agosti, Massimo;
Pensabene, Licia

Publication type:

Article

Beneficial Effects of Slow-Release Large Neutral Amino Acids after a Phenylalanine Oral Load in Patients with Phenylketonuria.

Published in:

Nutrients, 2021, v. 13, n. 11, p. 4012, doi. 10.3390/nu13114012

By:

Scala, Iris;
Concolino, Daniela;
Nastasi, Anna;
Esposito, Giulia;
Crisci, Daniela;
Sestito, Simona;
Ferraro, Stefania;
Albano, Lucia;
Ruoppolo, Margherita;
Parenti, Giancarlo;
Strisciuglio, Pietro

Publication type:

Article

Cow's Milk Protein Allergy in Infancy: A Risk Factor for Functional Gastrointestinal Disorders in Children?

Published in:

Nutrients, 2018, v. 10, n. 11, p. 1716, doi. 10.3390/nu10111716

By:

Pensabene, Licia;
Salvatore, Silvia;
D'Auria, Enza;
Parisi, Francesca;
Concolino, Daniela;
Borrelli, Osvaldo;
Thapar, Nikhil;
Staiano, Annamaria;
Vandenplas, Yvan;
Saps, Miguel

Publication type:

Article

Early detection of podiatric anomalies in children with Down syndrome.

Published in:

Acta Paediatrica, 2006, v. 95, n. 1, p. 17, doi. 10.1080/08035250500325108

By:

Concolino, Daniela;
Pasquzzi, Antonietta;
Capalbo, Giuseppe;
Sinopoli, Saverio;
Strisciuglio, Pietro

Publication type:

Article

Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy.

Published in:

Human Mutation, 2002, v. 19, n. 3, p. 309, doi. 10.1002/humu.9019

By:

Cuda, Giovanni;
Mussari, Andrea;
Concolino, Daniela;
Costanzo, Francesco S.;
Strisciuglio, Pietro

Publication type:

Article

Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report.

Published in:

2017

By:

Ceravolo, Ferdinando;
Grisolia, Michele;
Sestito, Simona;
Falvo, Francesca;
Moricca, Maria Teresa;
Concolino, Daniela

Publication type:

journal article

Cerebral and systemic near infrared spectroscopy patterns in preterm infants treated by caffeine.

Published in:

Acta Paediatrica, 2024, v. 113, n. 4, p. 700, doi. 10.1111/apa.17077

By:

Strozzi, Chiara;
Di Battista, Caterina;
Graziosi, Alessandro;
D'Adamo, Ebe;
Librandi, Michela;
Patacchiola, Roberta;
Maconi, Antonio;
Ghiglione, Valeria;
Pelazzo, Claudia;
Pasino, Marta;
Paterlini, Giuseppe;
Bozzetti, Valentina;
Salvo, Vincenzo;
Gazzolo, Francesca;
Concolino, Daniela;
Abella, Laura;
Spinelli, Martina;
Betti, Marta;
Bertolotti, Marinella;
Gazzolo, Diego

Publication type:

Article

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy.

Published in:

2018

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

Publication type:

journal article

Enzyme replacement therapy: efficacy and limitations.

Published in:

Italian Journal of Pediatrics, 2018, v. 44, n. 2, p. N.PAG, doi. 10.1186/s13052-018-0562-1

By:

Concolino, Daniela;
Deodato, Federica;
Parini, Rossella

Publication type:

Article

A 46,XY Female with a 9p24.3p24.1 Deletion and a 8q24.11q24.3 Duplication: A Case Report and Review of the Literature.

Published in:

Cytogenetic & Genome Research, 2019, v. 158, n. 2, p. 74, doi. 10.1159/000500619

By:

Bruni, Valentina;
Roppa, Katia;
Scionti, Francesca;
Apa, Rosalbina;
Sestito, Simona;
Di Martino, Maria T.;
Pensabene, Licia;
Concolino, Daniela

Publication type:

Article

Corpus callosum involvement: a useful clue for differentiating Fabry Disease from Multiple Sclerosis.

Published in:

Neuroradiology, 2017, v. 59, n. 6, p. 563, doi. 10.1007/s00234-017-1829-8

By:

Cocozza, Sirio;
Olivo, Gaia;
Riccio, Eleonora;
Russo, Camilla;
Pontillo, Giuseppe;
Ugga, Lorenzo;
Migliaccio, Silvia;
de Rosa, Dario;
Feriozzi, Sandro;
Veroux, Massimiliano;
Battaglia, Yuri;
Concolino, Daniela;
Pieruzzi, Federico;
Tuttolomondo, Antonino;
Caronia, Aurelio;
Russo, Cinzia;
Lanzillo, Roberta;
Brescia Morra, Vincenzo;
Imbriaco, Massimo;
Brunetti, Arturo

Publication type:

Article

Gastrointestinal Symptoms of Patients with Fabry Disease.

Published in:

Gastroenterology Research & Practice, 2015, p. 1, doi. 10.1155/2016/9712831

By:

Pensabene, Licia;
Sestito, Simona;
Nicoletti, Angela;
Graziano, Francesca;
Strisciuglio, Pietro;
Concolino, Daniela

Publication type:

Article

Modelling the resource implications of managing adults with Fabry disease in Italy.

Published in:

European Journal of Clinical Investigation, 2011, v. 41, n. 7, p. 710, doi. 10.1111/j.1365-2362.2010.02458.x

By:

Guest, Julian F.;
Concolino, Daniela;
Di Vito, Raffaele;
Feliciani, Claudio;
Parini, Rossella;
Zampetti, Anna

Publication type:

Article

Acid sphingomyelinase deficiency (ASMD): addressing knowledge gaps in unmet needs and patient journey in Italy—a Delphi consensus.

Published in:

Internal & Emergency Medicine, 2023, v. 18, n. 3, p. 831, doi. 10.1007/s11739-023-03238-3

By:

Scarpa, Maurizio;
Barbato, Antonio;
Bisconti, Annalisa;
Burlina, Alberto;
Concolino, Daniela;
Deodato, Federica;
Di Rocco, Maja;
Dionisi-Vici, Carlo;
Donati, Maria Alice;
Fecarotta, Simona;
Fiumara, Agata;
Galeone, Carlotta;
Giona, Fiorina;
Giuffrida, Gaetano;
Manna, Raffaele;
Mariani, Paolo;
Pession, Andrea;
Scopinaro, Annalisa;
Spada, Marco;
Spandonaro, Federico

Publication type:

Article

Left Atrial Strain in Cardiomyopathies and Congenital Heart Disease: A Call for Its Integration into Clinical Practice.

Published in:

Journal of Clinical Medicine, 2023, v. 12, n. 15, p. 5084, doi. 10.3390/jcm12155084

By:

Pelaia, Giulia;
Concolino, Daniela;
Sabatino, Jolanda

Publication type:

Article

CO-EXISTENCE OF PHENYLKETONURIA AND FABRY DISEASE ON A 3-YEAR-OLD BOY: CASE REPORT.

Published in:

Romanian Journal of Pediatrics / Revista Romana de Pediatrie, 2010, v. 59, n. 2, p. 134

By:

Concolino, Daniela;
Rapsomaniki, Maria;
Disabella, Eliana;
Sestito, Simona;
Pascale, Maria G.;
Moricca, Maria T.;
Bonapace, Giuseppe;
Arbustini, Elisea;
Strisciuglio, Pietro

Publication type:

Article

Cardiac involvement in MPS patients: incidence and response to therapy in an Italian multicentre study.

Published in:

2022

By:

Sestito, Simona;
Rinninella, Giada;
Rampazzo, Angelica;
D'Avanzo, Francesca;
Zampini, Lucia;
Santoro, Lucia;
Gabrielli, Orazio;
Fiumara, Agata;
Barone, Rita;
Volpi, Nicola;
Scarpa, Maurizio;
Tomanin, Rosella;
Concolino, Daniela

Publication type:

journal article

Home treatment in paediatric patients with Hunter syndrome: the first Italian experience.

Published in:

Italian Journal of Pediatrics, 2013, v. 39, n. 1, p. 53, doi. 10.1186/1824-7288-39-53

By:

Ceravolo, Ferdinando;
Mascaro, Italia;
Sestito, Simona;
Pascale, Elisa;
Lauricella, Antonino;
Dizione, Elio;
Concolino, Daniela

Publication type:

Article

Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation.

Published in:

2010

By:

Concolino, Daniela;
Muzzi, Gianluca;
Sestito, Simona;
Vega, Giovanna;
Bonapace, Giuseppe;
Strisciuglio, Pietro

Publication type:

journal article

Epilepsy, electroclinical features, and long‐term outcomes in Pitt–Hopkins syndrome due to pathogenic variants in the TCF4 gene.

Published in:

European Journal of Neurology, 2022, v. 29, n. 1, p. 19, doi. 10.1111/ene.15104

By:

Matricardi, Sara;
Bonanni, Paolo;
Iapadre, Giulia;
Elia, Maurizio;
Cesaroni, Elisabetta;
Danieli, Alberto;
Negrin, Susanna;
Zagaroli, Luca;
Operto, Francesca Felicia;
Carotenuto, Marco;
Pisani, Francesco;
Turco, Emanuela Claudia;
Orsini, Alessandro;
Bonuccelli, Alice;
Savasta, Salvatore;
Concolino, Daniela;
Di Cara, Giuseppe;
Striano, Pasquale;
Verrotti, Alberto

Publication type:

Article

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia.

Published in:

Children, 2022, v. 9, n. 11, p. 1679, doi. 10.3390/children9111679

By:

Risoleo, Maria Cristina;
Siciliano, Margherita;
Vetri, Luigi;
Bitetti, Ilaria;
Di Sessa, Anna;
Carotenuto, Marco;
Annunziata, Francesca;
Concolino, Daniela;
Marotta, Rosa

Publication type:

Article

RESISTANCE TO THYROID HORMONE DUE TO A NOVEL THR-β MUTATION IN A PATIENT WITH THYROID AGENESIS.

Published in:

Euromediterranean Biomedical Journal, 2018, v. 13, p. 191, doi. 10.3269/1970-5492.2018.13.43

By:

Scavone, Maria;
Leone, Giuseppina;
Parisi, Francesca;
Bonapace, Giuseppe;
Giancotti, Laura;
Pensabene, Licia;
Concolino, Daniela

Publication type:

Article

Urine Bikunin as a Marker of Renal Impairment in Fabry's Disease.

Published in:

BioMed Research International, 2013, v. 2013, p. 1, doi. 10.1155/2013/205948

By:

Lepedda, Antonio Junior;
Fancellu, Laura;
Zinellu, Elisabetta;
De Muro, Pierina;
Nieddu, Gabriele;
Deiana, Giovanni Andrea;
Canu, Piera;
Concolino, Daniela;
Sestito, Simona;
Formato, Marilena;
Sechi, Gianpietro

Publication type:

Article

Which cystography in the diagnosis and grading of vesicoureteral reflux?

Published in:

Pediatric Nephrology, 2008, v. 23, n. 1, p. 107, doi. 10.1007/s00467-007-0651-7

By:

Piscitelli, Antonio;
Galiano, Rossella;
Serrao, Francesco;
Concolino, Daniela;
Vitale, Rosa;
D'Ambrosio, Giovanna;
Pascale, Vittoria;
Strisciuglio, Pietro

Publication type:

Article

7p22.2 Microduplication: A Pathogenic CNV?

Published in:

2023

By:

Bauleo, Alessia;
Montesanto, Alberto;
Pace, Vincenza;
Guarasci, Francesco;
Apa, Rosalbina;
Brando, Rossella;
De Stefano, Laura;
Sestito, Simona;
Concolino, Daniela;
Falcone, Elena

Publication type:

Case Study

Clinical efficacy of Enzyme Replacement Therapy in paediatric Hunter patients, an independent study of 3.5 years.

Published in:

Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 2, doi. 10.1186/s13023-014-0129-1

By:

Tomanin, Rosella;
Zanetti, Alessandra;
D'Avanzo, Francesca;
Rampazzo, Angelica;
Gasparotto, Nicoletta;
Parini, Rossella;
Pascarella, Antonia;
Concolino, Daniela;
Procopio, Elena;
Fiumara, Agata;
Borgo, Andrea;
Frigo, Anna Chiara;
Scarpa, Maurizio

Publication type:

Article

Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Published in:

2014

By:

Tomanin, Rosella;
Zanetti, Alessandra;
D'Avanzo, Francesca;
Rampazzo, Angelica;
Gasparotto, Nicoletta;
Parini, Rossella;
Pascarella, Antonia;
Concolino, Daniela;
Procopio, Elena;
Fiumara, Agata;
Borgo, Andrea;
Frigo, Anna Chiara;
Scarpa, Maurizio

Publication type:

journal article

Immune responses to alglucosidase in infantile Pompe disease: recommendations from an Italian pediatric expert panel.

Published in:

Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01219-4

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

Publication type:

Article