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1

New Strategies for the Treatment of Phenylketonuria (PKU)

Strisciuglio, Pietro, Concolino, Daniela

Journal:

Year:

2014

Language:

english

File:

PDF, 240 KB

english, 2014

2

Which cystography in the diagnosis and grading of vesicoureteral reflux?

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

Journal:

Pediatric Nephrology

Year:

2008

Language:

english

File:

PDF, 131 KB

english, 2008

3

Clinical variability of cardio-facio-cutaneous syndrome: report of two additional cases

Monica Ghezzi, Giancarlo Parenti, Raffaella de Franchis, Vincenzo Farina, Francesco de Leva, Alfredo Guarino, Roberto Berni Canani, Pietro Strisciuglio

Journal:

Clinical Genetics

Year:

1992

Language:

english

File:

PDF, 387 KB

english, 1992

4

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

Scala, Iris, Concolino, Daniela, Casa, Roberto, Nastasi, Anna, Ungaro, Carla, Paladino, Serena, Capaldo, Brunella, Ruoppolo, Margherita, Daniele, Aurora, Bonapace, Giuseppe, Strisciuglio, Pietro, Pare

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 521 KB

english, 2015

5

Imbalanced cortisol concentrations in glycogen storage disease type I: evidence for a possible link between endocrine regulation and metabolic derangement

Rossi, Alessandro, Simeoli, Chiara, Salerno, Mariacarolina, Ferrigno, Rosario, Della Casa, Roberto, Colao, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo, Pivonello, Rosario, Melis, Daniela

Journal:

Orphanet Journal of Rare Diseases

Year:

2020

File:

PDF, 859 KB

2020

6

Successful DNA-based prenatal diagnosis of the 728+1 g→t mutation at the exon 6-intron 6 junction in the carbonic anhydrase II gene

M. Rafiq Islam, Pietro Strisciuglio, Giuseppe Bonapace, William S. Sly

Journal:

Prenatal Diagnosis

Year:

1999

Language:

english

File:

PDF, 146 KB

english, 1999

7

Seven novel mutations in carbonic anhydrase II deficiency syndrome identified by SSCP and direct sequencing analysis

Peiyi Y. Hu, E. Justin Lim, Jessica Ciccolella, Pietro Strisciuglio, William S. Sly

Journal:

Year:

1997

Language:

english

File:

PDF, 161 KB

english, 1997

8

Combined deficiency of β-galactosidase and neuraminidase: Natural history of the disease in the first 18 years of an American patient with late infantile onset form

Pietro Strisciuglio, William S. Sly, W. Edwin Dodson, William H. McAlister, Thomas C. Martin

Journal:

American Journal of Medical Genetics Part A

Year:

1990

Language:

english

File:

PDF, 633 KB

english, 1990

9

Germline mosaicism for the c.2021G > A (p.Arg674Gln) mutation in siblings with trismus pseudocamptodactyly

Giuseppe Bonapace, Ferdinando Ceravolo, Alessandro Piccirillo, Giovanni Duro, Pietro Strisciuglio, Daniela Concolino

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 126 KB

english, 2010

10

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

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

Journal:

Year:

2002

Language:

english

File:

PDF, 208 KB

english, 2002

11

Carbonic anhydrase II deficiency syndrome (osteopetrosis with renal tubular acidosis and brain calcification): Novel mutations in CA2 identified by direct sequencing expand the opportunity for genotype-phenotype correlation

Gul N. Shah, Giuseppe Bonapace, Peiyi Y. Hu, Pietro Strisciuglio, William S. Sly

Journal:

Year:

2004

Language:

english

File:

PDF, 319 KB

english, 2004

12

Comparative kinetics of phosphomannosyl receptor-mediated pinocytosis of fibroblast secretion acid hydrolases and glycopeptides prepared from them

H. David Fischer, Kim E. Creek, Pietro Strisciuglio, William S. Sly

Journal:

Journal of Cellular Biochemistry

Year:

1983

Language:

english

File:

PDF, 1.16 MB

english, 1983

13

Normal serum levels of vitamin B12 and folic acid in children with phenylketonuria

Pietro Strisciuglio, Daniela Concolino, Maria Teresa Moricca, Loris Rivalta, Giuseppe Parlato

Journal:

European Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 110 KB

english, 1995

14

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

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

Journal:

European Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 92 KB

english, 2010

15

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion

Spinazzola, Antonella, Viscomi, Carlo, Fernandez-Vizarra, Erika, Carrara, Franco, D'Adamo, Pio, Calvo, Sarah, Marsano, René Massimiliano, Donnini, Claudia, Weiher, Hans, Strisciuglio, Pietro

Journal:

Nature Genetics

Year:

2006

Language:

english

File:

PDF, 406 KB

english, 2006

16

Antral Nodularity and Positive CagA Serology are Distinct and Relevant Markers of Severe Gastric Inflammation in Children with Helicobacter pylori Infection

Francesco Luzza, Licia Pensabene, Maria Imeneo, Maria Mancuso, Laura Giancotti, Anna M. La Vecchia, Maria C. Costa, Pietro Strisciuglio, Francesco Pallone

Journal:

Year:

2002

Language:

english

File:

PDF, 226 KB

english, 2002

17

Dual vs. Triple Therapy for Childhood Helicobacter pylori Gastritis: a Double-Blind Randomized Multicentre Trial

Giuseppina Oderda, Daniela Marinello, Pietro Lerro, Maria Kuvidi, Gian Luigi De’Angelis, Anna Ferzetti, Salvatore Cucchiara, Maria Teresa Franco, Claudio Romano, Pietro Strisciuglio, Lucia Pensabene

Journal:

Year:

2004

Language:

english

File:

PDF, 236 KB

english, 2004

18

Early detection of podiatric anomalies in children with Down syndrome

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

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 91 KB

english, 2006

19

Co-existence of Phenylketonuria and Fabry disease on a 3 year-old boy: case report

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

Journal:

Year:

2010

Language:

english

File:

PDF, 257 KB

english, 2010

20

Early signs of vascular disease in homocystinuria: A noninvasive study by ultrasound methods in eight families with cystathionine-β-synthase deficiency

Paolo Rubba, Fulvio Faccenda, Paolo Pauciullo, Luciano Carbone, Mario Mancini, Pietro Strisciuglio, Romeo Carrozzo, Renata Sartorio, Ennio del Guidice, Generoso Andria

Journal:

Year:

1990

Language:

english

File:

PDF, 631 KB

english, 1990

21

Cytosolic carbonic anhydrase activity in chronic myeloid disorders with different clinical phenotype

Giuseppe Bonapace, Francesco Iuliano, Stefano Molica, Antonio Peta, Pietro Strisciuglio

Journal:

Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease

Year:

2004

Language:

english

File:

PDF, 234 KB

english, 2004

22

Precocious puberty in Sanfilippo IIIA disease: Diagnosis and follow-up of two new cases

D. Concolino, G. Muzzi, L. Pisaturo, A. Piccirillo, P. Di Natale, Pietro Strisciuglio

Journal:

European Journal of Medical Genetics

Year:

2008

Language:

english

File:

PDF, 119 KB

english, 2008

23

Glucose metabolism and diet-based prevention of liver dysfunction in MPV17 mutant patients

Rossella Parini, Francesca Furlan, Luigi Notarangelo, Antonella Spinazzola, Graziella Uziel, Pietro Strisciuglio, Daniela Concolino, Carlo Corbetta, Gabriella Nebbia, Francesca Menni, Giorgio Rossi, M

Journal:

Journal of Hepatology

Year:

2009

Language:

english

File:

PDF, 384 KB

english, 2009

24

Sleep and temperature rhythms in two sisters with P102L Gerstmann-Sträussler-Scheinker (GSS) disease

Federica Provini, Roberto Vetrugno, Giulia Pierangeli, Pietro Cortelli, Giovanni Rizzo, Alessandro Filla, Caterina Strisciuglio, Roberto Gallassi, Pasquale Montagna

Journal:

Year:

2009

Language:

english

File:

PDF, 165 KB

english, 2009

25

Identification and characterisation of an 8.7 kb deletion and a novel nonsense mutation in two Italian families with Sanfilippo syndrome type D (mucopolysaccharidosis IIID)

Clare E. Beesley, Daniela Concolino, Mirella Filocamo, Bryan G. Winchester, Pietro Strisciuglio

Journal:

Molecular Genetics and Metabolism

Year:

2007

Language:

english

File:

PDF, 386 KB

english, 2007

26

Prevalence of digital arches in children with abdominal pain and constipation

Annamaria Staiano, Maria Rosaria Andreotti, Valentino Perrotta, Pietro Strisciuglio

Journal:

The Journal of Pediatrics

Year:

1990

Language:

english

File:

PDF, 176 KB

english, 1990

27

Lysinuric protein intolerance characterized by bone marrow abnormalities and severe clinical course

Giancarlo Parenti, Gianfranco Sebastio, Pietro Strisciuglio, Barbara Incerti, Carmine Pecoraro, Luigi Terracciano, Generoso Andria

Journal:

The Journal of Pediatrics

Year:

1995

Language:

english

File:

PDF, 2.61 MB

english, 1995

28

Structure of the SLC7A7 Gene and Mutational Analysis of Patients Affected by Lysinuric Protein Intolerance

Maria Pia Sperandeo, Maria Teresa Bassi, Mirko Riboni, Giancarlo Parenti, Anna Buoninconti, Marta Manzoni, Barbara Incerti, Maria Rosaria Larocca, Maja Di Rocco, Pietro Strisciuglio, Irma Dianzani, Ro

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 107 KB

english, 2000

29

Antral nodularity identifies children infected with Helicobacter pylori with higher grades of gastric inflammation

Francesco Luzza, Licia Pensabene, Maria Imeneo, Maria Mancuso, Antonio Contaldo, Laura Giancotti, Anna M La Vecchia, Maria C Costa, Pietro Strisciuglio, Corrado Docimo, Francesco Pallone, Stefano Guan

Journal:

Gastrointestinal Endoscopy

Year:

2001

Language:

english

File:

PDF, 132 KB

english, 2001

30

Sanfilippo B syndrome (MPS III B): mild and severe forms within the same sibship

Generoso Andria, Paola di Natale, Ennio del Giudice, Pietro Strisciuglio, Patrizia Murino

Journal:

Clinical Genetics

Year:

1979

Language:

english

File:

PDF, 332 KB

english, 1979

31

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

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

Journal:

European Journal of Pediatrics

Year:

2014

Language:

english

File:

PDF, 208 KB

english, 2014

32

Detection of autoantibodies against enterocyte actin filaments as serological predictive test for intestinal villous atrophy in celiac disease: Results of a polycentric study

Clemente, Maria G., Musu, Maria P., Troncone, Riccardo, Ciacci, Carolina, Not, Tarcisio, Neri, Elena, Strisciuglio, Pietro, Maggiore, Giuseppe, Cicotto, Lucia, Sole, Gabriella, Gasbarrini, Giovanni, C

Journal:

Gastroenterology

Year:

2003

Language:

english

File:

PDF, 244 KB

english, 2003

33

Successful management of neonatal renal venous thrombosis

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

Journal:

Pediatrics International

Year:

2014

Language:

english

File:

PDF, 215 KB

english, 2014

34

Early detection of podiatric anomalies in children with Down syndrome

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

Journal:

Acta Paediatrica

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

35

Correction of Phenylketonuria after Liver Transplantation in a Child with Cirrhosis

Vajro, Pietro, Strisciuglio, Pietro, Houssin, Didier, Huault, Gilbert, Laurent, Jocelyne, Alvarez, Fernando, Bernard, Olivier

Journal:

Boston Medical and Surgical Journal

Year:

1993

File:

PDF, 188 KB

1993

36

Pulmonary Manifestations of Gaucher Disease

SANTAMARIA, FRANCESCA, PARENTI, GIANCARLO, GUIDI, GUIDO, FILOCAMO, MIRELLA, STRISCIUGLIO, PIETRO, GRILLO, GIACOMO, FARINA, VINCENZO, SARNELLI, PAOLA, RIZZOLO, MARIA GRAZIA, ROTONDO, ANTONIO, ANDRIA, G

Journal:

American Journal of Respiratory and Critical Care Medicine

Year:

1998

Language:

english

File:

PDF, 95 KB

english, 1998

37

Complementation, Cross Correction, and Drug Correction Studies of Combined β-Galactosidase Neuraminidase Deficiency in Human Fibroblasts

Strisciuglio, Pietro, Creek, Kim E, Sly, William S

Journal:

Pediatric Research

Year:

1984

Language:

english

File:

PDF, 482 KB

english, 1984

38

Celiac Disease: Predictors of Compliance With a Gluten-free Diet in Adolescents and Young Adults

Errichiello, Simona, Esposito, Oscar, Di Mase, Raffaella, Camarca, Maria Erminia, Natale, Clelia, Limongelli, Maria Giovanna, Marano, Caterina, Coruzzo, Anna, Lombardo, Maria, Strisciuglio, Pietro, Gr

Journal:

Journal of Pediatric Gastroenterology & Nutrition

Year:

2010

Language:

english

File:

PDF, 504 KB

english, 2010

39

Evidence favouring the gastro-oral route in the transmission of Helicobacter pylori infection in children

Luzza, Francesco, Mancuso, Maria, Imeneo, Maria, Contaldo, Antonio, Giancotti, Laura, Pensabene, Licia, Doldo, Patrizia, Liberto, Maria Carla, Strisciuglio, Pietro, Focà, Alfredo, Guandalini, Stefano,

Journal:

European Journal of Gastroenterology & Hepatology

Year:

2000

File:

PDF, 2.08 MB

2000

40

Norrbottnian clinical variant of Gaucher disease in Southern Italy

Sestito, Simona, Filocamo, Mirella, Ceravolo, Ferdinando, Falvo, Francesca, Grisolia, Michele, Moricca, Maria Teresa, Cantaffa, Renato, Grossi, Serena, Strisciuglio, Pietro, Concolino, Daniela

Journal:

Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 328 KB

english, 2017

41

Myocardial deformation in pediatric patients with mucopolysaccharidoses: A two-dimensional speckle tracking echocardiography study

Borgia, Francesco, Pezzullo, Enrica, Schiano Lomoriello, Vincenzo, Sorrentino, Regina, Lo Iudice, Francesco, Cocozza, Sara, Della Casa, Roberto, Parenti, Giancarlo, Strisciuglio, Pietro, Trimarco, Bru

Journal:

Echocardiography

Year:

2017

Language:

english

File:

PDF, 1.05 MB

english, 2017

42

Insulin-resistance in glycogen storage disease type Ia: linking carbohydrates and mitochondria?

Rossi, Alessandro, Ruoppolo, Margherita, Formisano, Pietro, Villani, Guglielmo, Albano, Lucia, Gallo, Giovanna, Crisci, Daniela, Moccia, Augusta, Parenti, Giancarlo, Strisciuglio, Pietro, Melis, Danie

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 1006 KB

english, 2018

43

A novel homozygous mutation in the SLCO2A1 gene causing pachydermoperiostosis: Efficacy of hydroxychloroquine treatment

Alessandrella, Annalisa, Della Casa, Roberto, Alessio, Maria, Puente Prieto, Jorge, Strisciuglio, Pietro, Melis, Daniela

Journal:

American Journal of Medical Genetics Part A

Year:

2018

Language:

english

File:

PDF, 439 KB

english, 2018

44

Gastrointestinal Symptoms of Patients with Fabry Disease

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

Journal:

Gastroenterology Research and Practice

Year:

2016

Language:

english

File:

PDF, 1.29 MB

english, 2016

45

Pain and sleep issues in Rett syndrome and other neurodevelopmental disorders

Cappuccio, Gerarda, Bernardo, Pia, Raiano, Enza, Pinelli, Michele, Alagia, Marianna, Esposito, Marcello, Della Casa, Roberto, Strisciuglio, Pietro, Brunetti-Pierri, Nicola, Bravaccio, Carmela

Journal:

Acta Paediatrica

Year:

2018

Language:

english

File:

PDF, 180 KB

english, 2018

46

Large Neutral Amino Acids (LNAAs) Supplementation Improves Neuropsychological Performances in Adult Patients with Phenylketonuria

Scala, Iris, Riccio, Maria Pia, Marino, Maria, Bravaccio, Carmela, Parenti, Giancarlo, Strisciuglio, Pietro

Journal:

Year:

2020

File:

PDF, 617 KB

2020

47

Ensuring continuity of care for children with inherited metabolic diseases at the time of COVID-19: the experience of a metabolic unit in Italy

Brunetti-Pierri, Nicola, Fecarotta, Simona, Staiano, Annamaria, Strisciuglio, Pietro, Parenti, Giancarlo

Journal:

Genetics in Medicine

Year:

2020

File:

PDF, 243 KB

2020