Carlo Dionisi-Vici

Summary

Country: Italy

Publications

  1. pmc COG5-CDG: expanding the clinical spectrum
    Daisy Rymen
    Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium
    Orphanet J Rare Dis 7:94. 2012
  2. pmc Recommendations for the management of tyrosinaemia type 1
    Corinne De Laet
    Nutrition and Metabolism Unit, Department of Pediatrics, University Children s Hospital Queen Fabiola, Brussels, Belgium
    Orphanet J Rare Dis 8:8. 2013
  3. ncbi request reprint 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
    Carlo Dionisi-Vici
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:383-9. 2006
  4. ncbi request reprint SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Brain 130:862-74. 2007
  5. doi request reprint A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
    Sara Boenzi
    Laboratory of Metabolic Biochemistry, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Clin Chim Acta 437:93-100. 2014
  6. doi request reprint Glutathione metabolism in cobalamin deficiency type C (cblC)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, 4 00165, Rome, Italy
    J Inherit Metab Dis 37:125-9. 2014
  7. doi request reprint Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS Rome, Italy
    Mol Genet Metab 109:208-14. 2013
  8. doi request reprint AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism
    Diego Martinelli
    Unit of Metabolism, Department of Pediatrics, Bambino Gesu Children s Hospital, Rome, Italy Section on Translational Neuroscience, Molecular Medicine Program, NICHD NIH, Bethesda, Maryland
    Ann N Y Acad Sci 1314:55-63. 2014
  9. doi request reprint TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
    Alessandra Torraco
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Neurogenetics 13:375-86. 2012
  10. doi request reprint Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
    Michela Catteruccia
    Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy Electronic address
    Mol Genet Metab 111:353-9. 2014

Collaborators

Detail Information

Publications44

  1. pmc COG5-CDG: expanding the clinical spectrum
    Daisy Rymen
    Centre for Metabolic Diseases, University Hospital Gasthuisberg, Leuven, Belgium
    Orphanet J Rare Dis 7:94. 2012
    ..Hum Mol Genet 2009; 18:4350-6). Contrary to most other COG-CDG cases, the patient presented a mild/moderate phenotype, i.e. moderate psychomotor retardation with language delay, truncal ataxia and slight hypotonia...
  2. pmc Recommendations for the management of tyrosinaemia type 1
    Corinne De Laet
    Nutrition and Metabolism Unit, Department of Pediatrics, University Children s Hospital Queen Fabiola, Brussels, Belgium
    Orphanet J Rare Dis 8:8. 2013
    ..The added value of this paper is that it summarises in detail current clinical knowledge about HT1 and makes recommendations for the management...
  3. ncbi request reprint 'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry
    Carlo Dionisi-Vici
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:383-9. 2006
    ..This paper describes the long-term outcome and the impact of expanded newborn screening on the so-called 'classical' organic acidurias (propionic aciduria, methylmalonic aciduria and isovaleric aciduria)...
  4. ncbi request reprint SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Brain 130:862-74. 2007
    ..We confirm and extend the findings on this inborn error of metabolism in the TCA cycle that must be carefully investigated by accurate metabolite analyses...
  5. doi request reprint A new simple and rapid LC-ESI-MS/MS method for quantification of plasma oxysterols as dimethylaminobutyrate esters. Its successful use for the diagnosis of Niemann-Pick type C disease
    Sara Boenzi
    Laboratory of Metabolic Biochemistry, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Clin Chim Acta 437:93-100. 2014
    ..In summary, our method provides a simple, rapid and non-invasive diagnostic tool for the biochemical diagnosis of NP-C disease. ..
  6. doi request reprint Glutathione metabolism in cobalamin deficiency type C (cblC)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, P zza S Onofrio, 4 00165, Rome, Italy
    J Inherit Metab Dis 37:125-9. 2014
    ..To evaluate the potential contribution of oxidative stress into the patophysiology of cblC defect, we have analyzed the in vivo glutathione metabolism in a large series of cblC deficient individuals...
  7. doi request reprint Glutathione: a redox signature in monitoring EPI-743 therapy in children with mitochondrial encephalomyopathies
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS Rome, Italy
    Mol Genet Metab 109:208-14. 2013
    ....
  8. doi request reprint AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism
    Diego Martinelli
    Unit of Metabolism, Department of Pediatrics, Bambino Gesu Children s Hospital, Rome, Italy Section on Translational Neuroscience, Molecular Medicine Program, NICHD NIH, Bethesda, Maryland
    Ann N Y Acad Sci 1314:55-63. 2014
    ....
  9. doi request reprint TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesis
    Alessandra Torraco
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Neurogenetics 13:375-86. 2012
    ....
  10. doi request reprint Persistent pulmonary arterial hypertension in the newborn (PPHN): a frequent manifestation of TMEM70 defective patients
    Michela Catteruccia
    Unit for Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy Electronic address
    Mol Genet Metab 111:353-9. 2014
    ....
  11. doi request reprint Efficacy of miglustat in Niemann-Pick C disease: a single centre experience
    Virginia Maria Ginocchio
    Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Mol Genet Metab 110:329-35. 2013
    ..02), indicating better response to therapy. We underline the importance of using a standardized disability scale to quantify and compare neurological features and their evolution over time. ..
  12. doi request reprint MEDNIK syndrome: a novel defect of copper metabolism treatable by zinc acetate therapy
    Diego Martinelli
    Unit of Metabolism, Bambino Gesu Children s Hospital, IRCCS, Piazza Sant Onofrio, 4 00165 Rome, Italy
    Brain 136:872-81. 2013
    ..Our results may also contribute to understand the mechanism(s) of intracellular trafficking of copper pumps...
  13. pmc Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathy
    Marzia Bianchi
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, Rome, Italy
    Biochem Biophys Res Commun 415:300-4. 2011
    ..Our data further expand the array of deletions in the mitochondrial genomes in association with liver failure. Thus analysis of mtDNA should be considered in the diagnosis of childhood-onset hepatopathies...
  14. doi request reprint Pediatric reference intervals for muscle coenzyme Q(10)
    Anna Pastore
    Laboratory of Metabolomics and Proteomics, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    Biomarkers 17:764-6. 2012
    ....
  15. doi request reprint EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh Syndrome
    Diego Martinelli
    Bambino Gesu Children s Hospital, IRCCS, Division of Metabolism, Piazza S Onofrio 4, 00165 Rome, Italy
    Mol Genet Metab 107:383-8. 2012
    ..To confirm these initial findings, a phase 2A open label trial of EPI-743 for children with genetically-confirmed Leigh syndrome was conducted and herein we report the results...
  16. doi request reprint Creatine metabolism in urea cycle defects
    Sara Boenzi
    Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesu Children s Hospital, IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy
    J Inherit Metab Dis 35:647-53. 2012
    ..Since arginine in most UCDs becomes a semi-essential aminoacid, measuring plasma Cr concentrations might be of help to optimize the dose of arginine substitution...
  17. doi request reprint Riboflavin responsive mitochondrial myopathy is a new phenotype of dihydrolipoamide dehydrogenase deficiency. The chaperon-like effect of vitamin B2
    Rosalba Carrozzo
    Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy Electronic address
    Mitochondrion 18:49-57. 2014
    ..Morphological and functional studies support the riboflavin chaperon-like role in stabilizing DLD protein with rescue of its expression in the muscle...
  18. doi request reprint Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry
    Cristiano Rizzo
    Department of Laboratory Medicine, Bambino Gesu Children s Research Hospital, IRCCS, Rome, Italy
    Clin Chim Acta 429:30-3. 2014
    ..94% and 3.19% for succinyl-carnitine and 3.21%, and 2.56 for methylmalonyl-carnitine. This method is accurate and provides a new tool to differentiate patients with classical methylmalonic acidemia from those with SCS-related defects...
  19. doi request reprint Cobalamin C defect presenting with isolated pulmonary hypertension
    Francesca G Iodice
    Unit of Pediatric Cardiac Anesthesia and Intensive Care, Department of Pediatric Cardiology and Cardiac Surgery, Children s Hospital Bambino Gesu IRCCS, Rome, Italy
    Pediatrics 132:e248-51. 2013
    ..This novel way of presentation of cblC defect enlarges the spectrum of inherited diseases that must be considered in the differential diagnosis of pulmonary hypertension. ..
  20. doi request reprint Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine
    Diego Martinelli
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza Sant Onofrio, 4, 00165 Rome, Italy
    J Inherit Metab Dis 35:761-76. 2012
    ....
  21. doi request reprint Immunodeficiency in Vici syndrome: a heterogeneous phenotype
    Andrea Finocchi
    Division of Immunology and Infectious Disease, University Hospital Department of Pediatrics, University of Rome Tor Vergata and Children s Hospital Bambino Gesù, Rome, Italy
    Am J Med Genet A 158:434-9. 2012
    ....
  22. ncbi request reprint Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease)
    Maurizio Caniglia
    Bone Marrow Transplant Unit, Hematology Division, Bambino Gesu Children s Hospital IRCCS, Piazza Sant Onofrio, 400165 Rome, Italy
    Pediatr Transplant 6:427-31. 2002
    ..It is to be demonstrated if a very early hemopoietic stem cell transplantation during the first weeks of life, could be appropriate and efficacious...
  23. pmc Plasma levels of homocysteine and cysteine increased in pediatric NAFLD and strongly correlated with severity of liver damage
    Anna Pastore
    Metabolomics and Proteomics Unit, Bambino Gesu Children s Hospital, IRCCS, Rome 00165, Italy
    Int J Mol Sci 15:21202-14. 2014
    ....
  24. doi request reprint Short-term survival of hyperammonemic neonates treated with dialysis
    Stefano Picca
    Nephrology and Dialysis Unit, Department of Nephrology Urology, Bambino Gesu Children s Hospital IRCCS, Rome, Italy
    Pediatr Nephrol 30:839-47. 2015
    ..In severe neonatal hyperammonemia, extracorporeal dialysis (ECD) provides higher ammonium clearance than peritoneal dialysis (PD). However, there are limited outcome data in relation to dialysis modality...
  25. doi request reprint Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening
    Arianna Maiorana
    Department of Pediatrics, Metabolic Unit, IRCCS Bambino Gesù Children s Hospital, Rome, Italy
    Clin Endocrinol (Oxf) 81:679-88. 2014
    ..Objective of this report is proposing a new algorithm in which early genetic screening, rather than diazoxide trial, dictates subsequent clinical decisions...
  26. doi request reprint Gender-related effects on urine L-cystine metastability
    Andrea Masotti
    Gene Expression Microarrays Laboratory, Bambino Gesu Children s Hospital IRCCS, Piazza S Onofrio 4, 00165, Rome, Italy
    Amino Acids 46:415-27. 2014
    ..These data indicate that urinary excretion of nucleosides and VMA may represent important factors that modulate L-cystine solubility and may represent new targets for therapy in cystinuria...
  27. ncbi request reprint Methylmalonic and propionic aciduria
    Federica Deodato
    Division of Metabolism, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, I 00165 Rome, Italy
    Am J Med Genet C Semin Med Genet 142:104-12. 2006
    ..However, the limited number of patients and the short duration of their follow-up do not yet permit drawing final conclusions on its effect on the long-term outcome of methylmalonic and propionic acidemia...
  28. doi request reprint Peroxisomal acyl-CoA-oxidase deficiency: two new cases
    Rosalba Carrozzo
    Unit of Molecular Medicine, Bambino Gesu Children s Hospital, Rome, Italy
    Am J Med Genet A 146:1676-81. 2008
    ..Mutation analysis in the second patient revealed compound heterozygosity for two mutations, including: (1) a c.692 G > T (p.G231V) mutation and (2) skipping of exon 13 (c.1729_1935del (p.G577_E645del)...
  29. doi request reprint Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders
    Guglielmo Duranti
    Division of Metabolism, Bambino Gesù Research Institute, Piazza S Onofrio 4, 00165 Rome, Italy
    Clin Chim Acta 398:86-9. 2008
    ..e. elevated C16:0-DC-, C18:0-DC-, C24:0-, C26:0-carnitine). We developed an ESI-MS/MS method for quantification of urine acylcarnitines and tested its reliability for the diagnosis of PBDs...
  30. ncbi request reprint Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria
    Gabriella Di Rosa
    Division of Metabolism, Bambino Gesu Children s Research Hospital, Piazza S Onofrio 4, I 00165, Rome, Italy
    J Inherit Metab Dis 29:546-50. 2006
    ..This peculiar phenotype, for which a primary mitochondrial disorder is hypothesized, identifies a novel subtype of 3-methylglutaconic aciduria...
  31. doi request reprint Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS)
    Sara Boenzi
    Division of Metabolism, Bambino Gesu Pediatric Hospital, Rome, Italy
    J Pharm Biomed Anal 56:792-8. 2011
    ..We analyzed 283 healthy subjects from 0 to 63 years old to obtain age-related control values...
  32. doi request reprint Cobalamin C defect presenting as severe neonatal hyperammonemia
    Diego Martinelli
    Division of Metabolism, Bambino Gesu Children s Hospital, Rome, Italy
    Eur J Pediatr 170:887-90. 2011
    ..We report a Cbl-C defect patient presenting a neonatal encephalopathy with severe hyperammonemia and ketoacidosis who was successfully treated with peritoneal dialysis...
  33. doi request reprint Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation
    Roberta Taurisano
    Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu Children s Hospital, IRCCS, Piazza S Onofrio 4, Rome, 00165, Italy
    Eur J Pediatr 173:1391-4. 2014
    ..We discuss the pathophysiological role of cholesteryl ester-induced inflammasome activation in macrophages, leading to a secondary HLH...
  34. ncbi request reprint Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients
    Rosalba Carrozzo
    Unit of Muscular and Neurodegenerative Diseases, Laboratory of Molecular Medicine, Bambino Ges Children s Hospital, IRCCS, Rome, Italy
    J Inherit Metab Dis . 2015
    ..We report here 25 new patients with succinate-CoA ligase deficiency, and review the clinical and molecular findings in these and 46 previously reported patients...
  35. doi request reprint Immune tolerance induced using plasma exchange and rituximab in an infantile Pompe disease patient
    Federica Deodato
    Division of Metabolism, Department of Pediatric Medicine, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
    J Child Neurol 29:850-4. 2014
    ....
  36. doi request reprint Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) gene
    Fabrizio Barbetti
    Bambino Gesu Pediatric Hospital, Istituto di Ricovero e Cura a Carattere Scientifico, Rome, Italy
    Mol Endocrinol 23:1983-9. 2009
    ..In summary, we identified a novel activating GCK mutation that although being associated with severe neonatal hypoglycemia is characterized by the mildest activation of the glucokinase enzyme of all previously reported...
  37. doi request reprint Cobalamin C defect: natural history, pathophysiology, and treatment
    Diego Martinelli
    Division of Metabolism, Bambino Gesu Children s Hospital, Rome, Italy
    J Inherit Metab Dis 34:127-35. 2011
    ..The unfavorable outcome suggests that better understanding of the pathophysiology of the disease is needed to improve treatment protocols and to develop new therapeutic approaches...
  38. doi request reprint Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes disease
    Pietro Sirleto
    Cytogenetics and Molecular Genetics, Bambino Gesu Children s Hospital, Roma 00165, Italy
    Pediatr Res 65:347-51. 2009
    ....
  39. doi request reprint Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcome
    Valerio Nobili
    Division of Metabolism, Bambino Gesu Children s Hospital, Rome, Italy
    Pediatrics 126:e235-8. 2010
    ..We encourage clinicians to perform more accurate evaluation of liver histology, because a neoplastic mass in a child with tyrosinemia type 1 is not the same as HCC...
  40. ncbi request reprint MRI findings in an adolescent with type I citrullinaemia
    Daniela Longo
    Department of Paediatric Radiology, Bambino Gesu Children s Hospital, Piazza S Onofrio 4, Rome, 00165, Italy
    Pediatr Radiol 38:237-40. 2008
    ..Since our patient's neuroradiological findings showed greater similarity to type II citrullinaemia, we think his brain injury during this acute episode was probably age-related and independent of the type of citrullinaemia...
  41. doi request reprint Medical management and dialysis therapy for the infant with an inborn error of metabolism
    Stefano Picca
    Department of Nephrology and Urology, Dialysis Unit, Bambino Gesu Children s Research Hospital, Rome, Italy
    Semin Nephrol 28:477-80. 2008
    ..The current article addresses the underlying causes, medical management strategies, and dialytic therapy considerations in caring for the neonate with hyperammonemia...
  42. pmc Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndrome
    Biagio Didona
    Dermatology Division, IDI IRCCS, Via Monti di Creta, 104, Rome, Italy
    J Hum Genet 52:865-70. 2007
    ..These results add to understanding of the genetic basis of SLS and will be useful for DNA diagnosis of this disease...
  43. ncbi request reprint Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystonia
    Georg F Hoffmann
    Department of Pediatrics, University of Heidelberg, Heidelberg, Germany
    Ann Neurol 54:S56-65. 2003
    ..Investigations of neurotransmitter defects by specific cerebrospinal fluid determinations should be included in the diagnostic evaluation of children with progressive infantile encephalopathy...
  44. doi request reprint Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
    Celia Nogueira
    Genetics Medical Center, INSA, Oporto, Portugal
    Mol Genet Metab 93:475-80. 2008
    ....