D. Concolino

P. Strisciuglio, D. Concolino, F. Pallone, 2004, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

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

D. Concolino, C. Cuppari, A. Lacquaniti, 2021, Pediatric Nephrology.

Parapelvic cysts, a distinguishing feature of renal Fabry disease

F. Pieruzzi, D. Bruzzese, R. Mignani, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Intrafamilial phenotypic variability in four families with Anderson‐Fabry disease

F. Pieruzzi, P. Strisciuglio, D. Concolino, 2014, Clinical genetics.

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

J. Guest, D. Concolino, R. Parini, 2011, European journal of clinical investigation.

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

A. Staiano, M. Saps, S. Salvatore, 2018, Nutrients.

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

S. Sestito, D. Concolino, F. Scionti, 2019, Cytogenetic and Genome Research.

Oxidative stress biomarkers in Fabry disease: is there a room for them?

D. Girelli, M. Mancuso, A. Tuttolomondo, 2020, Journal of Neurology.

Neurological Findings in Anderson-Fabry Disease

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

A de novo 8q22.2-24.3 duplication in a patient with mild phenotype.

M. Fichera, C. Romano, P. Strisciuglio, 2012, European journal of medical genetics.

Gastrointestinal Symptoms of Patients with Fabry Disease

S. Sestito, P. Strisciuglio, F. Graziano, 2015, Gastroenterology research and practice.

Enzyme replacement therapy with agalsidase alfa in a cohort of Italian patients with Anderson–Fabry disease: testing the effects with the Mainz Severity Score Index

S. Feriozzi, P. Strisciuglio, D. Concolino, 2008, Clinical genetics.

Profile of idursulfase for the treatment of Hunter syndrome

S. Sestito, D. Concolino, L. Pensabene, 2015 .

Delayed gastric emptying: a novel gastrointestinal finding in Turner's syndrome.

A. Staiano, P. Strisciuglio, G. Marsullo, 1996, Archives of disease in childhood.

Intracellular FMRpolyG-Hsp70 complex in fibroblast cells from a patient affected by fragile X tremor ataxia syndrome

A. Quattrone, G. Arabia, G. Barbagallo, 2019, Heliyon.

Phenylketonuria in Italy: Distinct distribution pattern of three mutations of the phenylalanine hydroxylase gene

I. Dianzani, S. Giannattasio, G. Andria, 1997, Journal of Inherited Metabolic Disease.

Functional Abdominal Pain

D. Concolino, M. A. Castelluzzo, L. Pensabene, 2018, Current Pediatrics Reports.

Therapeutic afucosylated monoclonal antibody and bispecific T-cell engagers for T-cell acute lymphoblastic leukemia

P. Tassone, P. Tagliaferri, A. Giordano, 2021, Journal for ImmunoTherapy of Cancer.

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

P. Strisciuglio, D. Concolino, S. Formicola, 2000, American journal of medical genetics.

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

A. Staiano, M. Saps, S. Salvatore, 2019, Jornal de pediatria.

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

S. Sestito, I. Scala, G. Parenti, 2021, Nutrients.

Familial pericentric inversion of chromosome 5 in a family with benign neonatal convulsions

S. Giglio, P. Strisciuglio, D. Concolino, 2002, Journal of medical genetics.

Endocrine system involvement in patients with RASopathies: A case series

M. Tartaglia, V. Pinna, S. Sestito, 2022, Frontiers in Endocrinology.

Clinical heterogeneity of dominant chronic mucocutaneous candidiasis disease: presenting as treatment-resistant candidiasis and chronic lung disease.

L. Dotta, G. Giardino, V. Lougaris, 2016, Clinical immunology.

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

A. Ficcadenti, R. Manara, G. Polonara, 2011, Journal of Inherited Metabolic Disease.

Enzyme replacement therapy: efficacy and limitations

F. Deodato, D. Concolino, R. Parini, 2018, Italian Journal of Pediatrics.

Long term effects of enzyme replacement therapy in an Italian cohort of type 3 Gaucher patients.

B. Bembi, Chiara Perrìa, S. Linari, 2014, Molecular genetics and metabolism.

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

S. Sestito, D. Concolino, M. Moricca, 2017, Journal of Medical Case Reports.

Rare compound heterozygosity for IVS2 +1G>A and R170P in an Italian patient with Gaucher disease type 1

M. Filocamo, P. Strisciuglio, D. Concolino, 2003, Clinical genetics.

Which cystography in the diagnosis and grading of vesicoureteral reflux?

P. Strisciuglio, D. Concolino, A. Piscitelli, 2008, Pediatric Nephrology.

Total and single species of uronic acid-bearing glycosaminoglycans in urine of newborns of 2-3days of age for early diagnosis application.

O. Gabrielli, G. Coppa, F. Galeotti, 2016, Clinica chimica acta; international journal of clinical chemistry.

17beta-Hydroxysteroid dehydrogenase-3 deficiency: from pregnancy to adolescence.

R. Fischetto, O. Hiort, G. Chiumello, 2009, Journal of endocrinological investigation.

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

R. Tomanin, A. Frigo, D. Concolino, 2014, Orphanet Journal of Rare Diseases.

Genetic Screening of Anderson-Fabry Disease in Probands Referred From Multispecialty Clinics.

L. Tavazzi, E. Arbustini, M. Mancuso, 2016, Journal of the American College of Cardiology.

Assessment of intrafamilial clinical variability of poikiloderma with neutropenia by a 10-year follow-up of three affected siblings.

S. Sestito, E. Colombo, D. Concolino, 2019, European journal of medical genetics.

Clericuzio‐type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: Delineation of the phenotype

S. Sestito, E. Colombo, P. Strisciuglio, 2010, American journal of medical genetics. Part A.

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

F. Pieruzzi, A. Tuttolomondo, A. Brunetti, 2017, Neuroradiology.

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

M. Zeviani, L. Notarangelo, G. Uziel, 2009, Journal of hepatology.

The Cytoscan HD Array in the Diagnosis of Neurodevelopmental Disorders

D. Concolino, F. Scionti, L. Pensabene, 2018, High-throughput.

Werner syndrome: a rare mutation

G. Coppolino, S. Sestito, D. Concolino, 2018, Aging Clinical and Experimental Research.

The Role of Prebiotics and Probiotics in Prevention of Allergic Diseases in Infants

S. Sestito, S. Salvatore, D. Concolino, 2020, Frontiers in Pediatrics.

Partial trisomy 1(q42-->qter): a new case with a mild phenotype.

P. Strisciuglio, D. Concolino, R. Cinti, 1998, Journal of medical genetics.

Down syndrome and breastfeeding

G. Andria, M. Piccione, P. Strisciuglio, 2003, Acta paediatrica.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Evolution of congenital hypothyroidism in a cohort of preterm born children.

S. Sestito, D. Concolino, M. Scavone, 2020, Pediatrics and neonatology.

Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene.

Fabio Macciardi, Andrea Calabria, Michele Fimiani, 2010, American journal of human genetics.

Ring chromosome 10 (p15q26) in a patient with unipolar affective disorder, multiple minor anomalies, and mental retardation

S. Giglio, P. Strisciuglio, R. Marotta, 2003, American journal of medical genetics. Part A.

Deletion of a 760 kb region at 4p16 determines the prenatal and postnatal growth retardation characteristic of Wolf-Hirschhorn syndrome

R. Tenconi, R. Giorda, O. Zuffardi, 2007, Journal of Medical Genetics.

Electroclinical evolution in ring chromosome 20 epilepsy syndrome: A case with severe phenotypic features followed for 25 years

D. Concolino, R. Verardi, F. A. Falco, 2006, Seizure.

Centric fission of chromosome 9 in a boy with trisomy 9p.

G. Andria, P. Strisciuglio, D. Concolino, 1998, American journal of medical genetics.

Clinical and immunological data of nine patients with chronic mucocutaneous candidiasis disease

L. Dotta, G. Giardino, V. Lougaris, 2016, Data in brief.

Myoglobinuria as first clinical sign of a primary alpha-sarcoglycanopathy

S. Messina, P. Strisciuglio, C. Rodolico, 2014, European Journal of Pediatrics.

Occurrence of thanatophoric dysplasia type I (R248C) and hypochondroplasia (N540K) mutations in two patients with achondroplasia phenotype.

P. Mastroiacovo, D. Concolino, G. Camera, 2001, American journal of medical genetics.

Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study

R. Tomanin, L. Santoro, N. Volpi, 2019, European Journal of Pediatrics.

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).

M. Filocamo, P. Strisciuglio, C. Beesley, 2007, Molecular genetics and metabolism.

Deletion of the SHOX gene in patients with short stature of unknown cause

G. Scarano, A. Giannotti, V. Gatta, 2003, American journal of medical genetics. Part A.

Pathobiological Insights into Neurological Involvement in Cobalamin C Deficiency

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

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

G. Trifirò, M. Cappellini, A. Pession, 2023, Internal and Emergency Medicine.

Overlap between functional abdominal pain disorders and organic diseases in children.

M. Saps, S. Salvatore, D. Concolino, 2018, Revista de gastroenterologia de Mexico.

Anderson-Fabry disease in children.

S. Sestito, D. Concolino, Ferdinando Ceravolo, 2013, Current pharmaceutical design.

Genetic variants associated with Fabry disease progression despite enzyme replacement therapy

Giuseppe Agapito, Pietro Hiram Guzzi, Mariamena Arbitrio, 2017, Oncotarget.

Psychopathological Risk Assessment in Children with Hyperphenylalaninemia

M. Carotenuto, R. Marotta, D. Concolino, 2022, Children.

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

B. Capaldo, G. Andria, I. Scala, 2015, Orphanet Journal of Rare Diseases.

Hypertension and obesity in Italian school children: The role of diet, lifestyle and family history.

A. Rosano, P. Strisciuglio, D. Concolino, 2015, Nutrition, metabolism, and cardiovascular diseases : NMCD.

Electroclinical findings and long‐term outcomes in epileptic patients with inv dup (15)

P. Striano, A. Romeo, S. Savasta, 2018, Acta neurologica Scandinavica.

Functional and morphological cardiovascular alterations associated with neurofibromatosis 1

C. Indolfi, A. Gnasso, J. Sabatino, 2020, Scientific Reports.

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

O. Gabrielli, R. Tomanin, S. Sestito, 2022, Orphanet Journal of Rare Diseases.

Intracellular FMRpolyG-HSP70 complex: Possible use as biochemical marker of Fragile X Tremor Ataxia Syndrome

A. Quattrone, G. Arabia, G. Barbagallo, 2018, bioRxiv.

Recent Insights on Pediatric Pseudotumor Cerebri Syndrome Pathophysiology: From the “Unifying Neuroendocrine Perspective” to the “Integrated Bioenergetic–Hormonal Mechanism”

K. Weber, V. Salpietro, C. Johanson, 2015, Journal of Pediatric Neurology.

Neuronopathic Gaucher Disease

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

Genetic variants associated with gastrointestinal symptoms in Fabry disease

Giuseppe Agapito, Pietro Hiram Guzzi, Mariamena Arbitrio, 2016, Oncotarget.

Norrbottnian clinical variant of Gaucher disease in Southern Italy

S. Grossi, M. Filocamo, S. Sestito, 2016, Journal of Human Genetics.

Chiari 1 malformation and holocord syringomyelia in hunter syndrome.

R. Manara, D. Concolino, M. Scarpa, 2014, JIMD Reports.

The Neuronal Ceroid Lipofuscinoses: A Case-Based Overview

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

Meeting Abstracts from the 77th Congress of the Italian Society of Pediatrics

F. Ricca, S. Sestito, A. Guarino, 2023, Italian Journal of Pediatrics.

Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease.

D. Concolino, R. Parini, Daniela Concolino, 2014, European journal of internal medicine.

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

S. Sestito, D. Concolino, I. Mascaro, 2013, Italian Journal of Pediatrics.

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

P. Striano, A. Orsini, S. Savasta, 2021, European journal of neurology.

Overlap between functional abdominal pain disorders and organic diseases in children

M. Saps, S. Salvatore, D. Concolino, 2018, Revista de Gastroenterología de México (English Edition).

Hyperphenylalaninemia: From Diagnosis to Therapy

A. Polizzi, V. Salpietro, M. Ruggieri, 2016, Journal of Pediatric Biochemistry.

Neurological Involvement in Inherited Metabolic Diseases: An Overview

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients

P. Strisciuglio, D. Concolino, G. Muzzi, 2008, Journal of Inherited Metabolic Disease.

The Different Forms of Mucopolysaccharidosis with Neurological Involvement: A Case-Based Review

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

Pathobiological Insights into the Newly Targeted Therapies of Lysosomal Storage Disorders

A. Polizzi, S. Sestito, V. Salpietro, 2016, Journal of Pediatric Biochemistry.

Long-term treatment of phenylketonuria with a new medical food containing large neutral amino acids

R. Matalon, G. Radhakrishnan, P. Strisciuglio, 2016, European Journal of Clinical Nutrition.

Facial Dysmorphisms, Macrodontia, Focal Epilepsy, and Thinning of the Corpus Callosum: A Rare Mild Form of Kabuki Syndrome

A. Novelli, S. Sestito, D. Concolino, 2020, Journal of Pediatric Genetics.

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

A. Pession, M. Donati, M. Di Rocco, 2023, Orphanet Journal of Rare Diseases.

7p22.2 Microduplication: A Pathogenic CNV?

S. Sestito, D. Concolino, A. Montesanto, 2023, Genes.

Long survival of a patient with Marshall-Smith syndrome without respiratory complications.

G. Andria, P. Strisciuglio, D. Concolino, 1993, Journal of medical genetics.

Composition and structure of glycosaminoglycans in DBS from 2-3-day-old newborns for the diagnosis of mucopolysaccharidosis.

O. Gabrielli, G. Coppa, L. Padella, 2018, Analytical biochemistry.

Optimizing the Molecular Diagnosis of GALNS: Novel Methods to Define and Characterize Morquio—A Syndrome‐Associated Mutations

S. Mooney, S. Bianca, Biao Li, 2015, Human mutation.

Congenital hypertrichosis, cardiomegaly, and osteochondrodysplasia (Cantú syndrome): a new case with unusual radiological findings.

P. Strisciuglio, D. Concolino, S. Formicola, 2000, American journal of medical genetics.