Research Topics
Genomes and GenesSpecies | Carlo Dionisi-ViciSummaryCountry: Italy Publications
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Publications
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometryCarlo 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)...
TMEM70: a mutational hot spot in nuclear ATP synthase deficiency with a pivotal role in complex V biogenesisAlessandra Torraco
Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Diseases, Bambino Gesu Children s Hospital, IRCCS, Rome, Italy
Neurogenetics 13:375-86. 2012....- SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafnessRosalba 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... 
Novel large-range mitochondrial DNA deletions and fatal multisystemic disorder with prominent hepatopathyMarzia 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...- Creatine metabolism in urea cycle defectsSara 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... - 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.... - EPI-743 reverses the progression of the pediatric mitochondrial disease--genetically defined Leigh SyndromeDiego 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... - Immunodeficiency in Vici syndrome: a heterogeneous phenotypeAndrea 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.... - Peroxisomal acyl-CoA-oxidase deficiency: two new casesRosalba 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)... - Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disordersGuglielmo 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... - 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... - Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduriaGabriella Di Rosa
Division of Metabolism, , 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... - Cobalamin C defect presenting as severe neonatal hyperammonemiaDiego Martinelli
Division of Metabolism, Bambino Gesu Children s Hospital, Rome, Italy
Eur J Pediatr 170:887-90. 2011..This observation enlarges the spectrum of inherited diseases to be considered in the differential diagnosis of neonatal hyperammonemia... - 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... - Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginineDiego Martinelli
Division of Metabolism, Bambino Gesu Children s Hospital, Piazza Sant Onofrio, 4, 00165 Rome, Italy
J Inherit Metab Dis 35:761-76. 2012.... - Lyonization effects of the t(X;16) translocation on the phenotypic expression in a rare female with Menkes diseasePietro Sirleto
Cytogenetics and Molecular Genetics, Bambino Gesu Children s Hospital, Roma 00165, Italy
Pediatr Res 65:347-51. 2009.... - Methylmalonic and propionic aciduriaFederica Deodato
Division of Metabolism, , 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... - Opposite clinical phenotypes of glucokinase disease: Description of a novel activating mutation and contiguous inactivating mutations in human glucokinase (GCK) geneFabrizio 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... - Cobalamin C defect: natural history, pathophysiology, and treatmentDiego 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... - Novel and recurrent ALDH3A2 mutations in Italian patients with Sjögren-Larsson syndromeBiagio 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... - MRI findings in an adolescent with type I citrullinaemiaDaniela 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... - Tyrosinemia type 1: metastatic hepatoblastoma with a favorable outcomeValerio 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... - Medical management and dialysis therapy for the infant with an inborn error of metabolismStefano 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... - Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC typeCelia Nogueira
Genetics Medical Center, INSA, Oporto, Portugal
Mol Genet Metab 93:475-80. 2008.... - Tyrosine hydroxylase deficiency causes progressive encephalopathy and dopa-nonresponsive dystoniaGeorg 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...