Daniela Concolino

Summary

Affiliation: Magna Graecia University
Country: Italy

Publications

  1. doi Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease
    Daniela Concolino
    Department of Paediatrics, University Magna Graecia of Catanzaro, Catanzaro, Italy Electronic address
    Eur J Intern Med 25:751-6. 2014
  2. pmc Home treatment in paediatric patients with Hunter syndrome: the first Italian experience
    Ferdinando Ceravolo
    Department of Paediatrics, University Magna Graecia of Catanzaro c o Ospedale Civile A, Pugliese, Viale Pio X, 88100 Catanzaro, Italy
    Ital J Pediatr 39:53. 2013
  3. ncbi Anderson-Fabry disease in children
    Simona Sestito
    Department of Pediatrics, University Magna Graecia of Catanzaro, Pugliese Ciaccio Hospital, Viale Pio X, 88100 Catanzaro, Italy
    Curr Pharm Des 19:6037-45. 2013
  4. doi A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
    D Concolino
    Department of Pediatrics, University Magna Graecia, Catanzaro, Italy
    Eur J Med Genet 55:67-70. 2012
  5. ncbi Early detection of podiatric anomalies in children with Down syndrome
    Daniela Concolino
    Department of Paediatrics, University Magna Graecia, Catanzaro, Italy
    Acta Paediatr 95:17-20. 2006
  6. doi Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients
    D Concolino
    Department of Pediatrics, University Magna Graecia of Catanzaro, c o Ospedale Civile A Pugliese, Viale Pio X, 88100, Catanzaro, Italy
    J Inherit Metab Dis 31:S193-7. 2008
  7. doi Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
    D Concolino
    Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A Pugliese, Catanzaro, Italy
    Am J Med Genet A 152:2588-94. 2010
  8. pmc Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report
    Daniela Concolino
    Department of Pediatrics, University Magna Graecia, Catanzaro, Italy
    BMC Pediatr 10:32. 2010
  9. doi Norrbottnian clinical variant of Gaucher disease in Southern Italy
    Simona Sestito
    Department of Medical and Surgical Science, Paediatric Unit, University Magna Graecia, Catanzaro, Italy
    J Hum Genet . 2016
  10. doi Dopamine agonists in dihydropteridine reductase deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Italy
    Mol Genet Metab 105:582-4. 2012

Collaborators

Detail Information

Publications19

  1. doi Delphi consensus on the current clinical and therapeutic knowledge on Anderson-Fabry disease
    Daniela Concolino
    Department of Paediatrics, University Magna Graecia of Catanzaro, Catanzaro, Italy Electronic address
    Eur J Intern Med 25:751-6. 2014
    ..Management of Anderson-Fabry disease (AFD) is contentious, particularly regarding enzyme replacement therapy (ERT). We report results of a Delphi consensus panel on AFD management...
  2. pmc Home treatment in paediatric patients with Hunter syndrome: the first Italian experience
    Ferdinando Ceravolo
    Department of Paediatrics, University Magna Graecia of Catanzaro c o Ospedale Civile A, Pugliese, Viale Pio X, 88100 Catanzaro, Italy
    Ital J Pediatr 39:53. 2013
    ..We report the results of the home therapy experience of 3 paediatric patients with MPS II in southern Italy. This pilot experience with home infusion is the first reported from Italy. ..
  3. ncbi Anderson-Fabry disease in children
    Simona Sestito
    Department of Pediatrics, University Magna Graecia of Catanzaro, Pugliese Ciaccio Hospital, Viale Pio X, 88100 Catanzaro, Italy
    Curr Pharm Des 19:6037-45. 2013
    ..This review aims to provide an update of the current understanding for a better approach of pediatric AFD...
  4. doi A de novo 8q22.2-24.3 duplication in a patient with mild phenotype
    D Concolino
    Department of Pediatrics, University Magna Graecia, Catanzaro, Italy
    Eur J Med Genet 55:67-70. 2012
    ..2-q24.3). We have compared this case with other partially trisomic 8q patients reported in literature and highlighted the common clinical features in 8q22-8q24 duplication syndrome...
  5. ncbi Early detection of podiatric anomalies in children with Down syndrome
    Daniela Concolino
    Department of Paediatrics, University Magna Graecia, Catanzaro, Italy
    Acta Paediatr 95:17-20. 2006
    ..To verify the importance of podiatric evaluation in patients with Down syndrome for the early diagnosis and treatment of minor orthopaedic problems...
  6. doi Serum prolactin as a tool for the follow-up of treated DHPR-deficient patients
    D Concolino
    Department of Pediatrics, University Magna Graecia of Catanzaro, c o Ospedale Civile A Pugliese, Viale Pio X, 88100, Catanzaro, Italy
    J Inherit Metab Dis 31:S193-7. 2008
    ..This report suggests that serum prolactin levels can be a good biomarker for optimal dosage of hydroxylated precursors in long-term treatment monitoring...
  7. doi Clericuzio-type poikiloderma with neutropenia syndrome in three sibs with mutations in the C16orf57 gene: delineation of the phenotype
    D Concolino
    Dipartimento di Pediatria, Università Magna Graecia, Ospedale Civile A Pugliese, Catanzaro, Italy
    Am J Med Genet A 152:2588-94. 2010
    ..In order to delineate the phenotype of this rare genodermatosis, the clinical presentation together with the molecular investigations in our patients are reported and compared to those from the literature...
  8. pmc Co-existence of phenylketonuria and Fabry disease on a 3 year-old boy: case report
    Daniela Concolino
    Department of Pediatrics, University Magna Graecia, Catanzaro, Italy
    BMC Pediatr 10:32. 2010
    ..Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A...
  9. doi Norrbottnian clinical variant of Gaucher disease in Southern Italy
    Simona Sestito
    Department of Medical and Surgical Science, Paediatric Unit, University Magna Graecia, Catanzaro, Italy
    J Hum Genet . 2016
    ..Journal of Human Genetics advance online publication, 22 December 2016; doi:10.1038/jhg.2016.158...
  10. doi Dopamine agonists in dihydropteridine reductase deficiency
    Francesco Porta
    Department of Pediatrics, University of Torino, Italy
    Mol Genet Metab 105:582-4. 2012
    ..Dopamine agonists can improve or even replace L-dopa therapy in disorders of synthesis and regeneration of BH4...
  11. doi Successful management of neonatal renal venous thrombosis
    Antonio Piscitelli
    Department of Pediatrics, University Magna Graecia, Catanzaro, Italy
    Pediatr Int 56:e65-7. 2014
    ....
  12. doi Long-term treatment with recombinant insulin-like growth factor 1 (IGF-1) in a child with IGF-1 gene mutation
    Daniela Concolino
    Department of Pediatrics, University Magna Graecia of Catanzaro, c o Ospedale Civile A Pugliese, 88100 Catanzaro, Italy
    Eur J Pediatr 169:245-7. 2010
    ..9 cm/year during the first year of treatment. In the following years, growth velocity was less but satisfactory during treatment, but decreased when therapy was stopped...
  13. pmc Gastrointestinal Symptoms of Patients with Fabry Disease
    Licia Pensabene
    Department of Pediatrics, Magna Graecia University, Viale Pio X, 88100 Catanzaro, Italy
    Gastroenterol Res Pract 2016:9712831. 2016
    ..The most frequent GI symptom in the children in our population was IBS-like abdominal pain, while the adults exhibited a full feeling following a regular-size meal and abdominal bloating/distension. ..
  14. pmc Combination therapy in a patient with chronic neuronopathic Gaucher disease: a case report
    Ferdinando Ceravolo
    Pediatrics Unit, Department of Medical and Surgical Science, University Magna Graecia, Catanzaro, Italy
    J Med Case Rep 11:19. 2017
    ..Because miglustat can cross the blood-brain barrier, it has been suggested that, combined with enzyme replacement therapy, it might be effective in treating neurological symptoms in patients with neuronopathic Gaucher disease...
  15. pmc New Strategies for the Treatment of Phenylketonuria (PKU)
    Pietro Strisciuglio
    Department of Pediatrics, University Federico II of Naples, Naples 8823100, Italy
    Metabolites 4:1007-17. 2014
    ..Gene therapy also seems to be a promising approach in the near future. ..
  16. ncbi Co-existence of frataxin and cardiac troponin T gene mutations in a child with Friedreich Ataxia and familial hypertrophic cardiomyopathy
    Giovanni Cuda
    Department of Experimental and Clinical Medicine G Salvatore, School of Medicine, Magna Graecia University, Catanzaro, Italy
    Hum Mutat 19:309-10. 2002
    ..This is, to our knowledge, the first description of a double gene defect in individuals with FA and FHC...
  17. doi DPM2-CDG: a muscular dystrophy-dystroglycanopathy syndrome with severe epilepsy
    Rita Barone
    Pediatric Neurology, Department of Pediatrics, University of Catania, Catania, Italy
    Ann Neurol 72:550-8. 2012
    ..There was clinical evidence of a muscular dystrophy-dystroglycanopathy syndrome, supported by deficient O-mannosylation by muscle immunohistochemistry...
  18. ncbi Which cystography in the diagnosis and grading of vesicoureteral reflux?
    Antonio Piscitelli
    Department of Paediatrics, The Magna Graecia University of Catanzaro, Catanzaro, Italy
    Pediatr Nephrol 23:107-10. 2008
    ..VUS and DRVC were found to be equally effective in the detection of VUR (kappa value 0.85). In conclusion, we found that VUS is a useful method for the diagnosis and grading of patients with VUR...
  19. ncbi 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
    Biochemistry, Endocrinology and Metabolism Unit, UCL Institute of Child Health, London, UK
    Mol Genet Metab 90:77-80. 2007
    ..The deletion is the first large intragenic deletion to be reported in any of the four Sanfilippo subtypes, including Sanfilippo type C in which the gene has recently been identified...