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Federica Deodato

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Publications

TOP 3
Diego Martinelli; Federica Deodato; Carlo Dionisi Vici
Cobalamin C defect: natural history, pathophysiology, and treatment.
Serena Grossi; Stefano Regis; Camillo Rosano; Fabio Corsolini; Graziella Uziel; Maria Sessa; Maja Di Rocco; Giancarlo Parenti; Federica Deodato; Vincenzo Leuzzi; Roberta Biancheri; Mirella Filocamo
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Rosalba Carrozzo; Carlo Bellini; Simona Lucioli; Federica Deodato; Denise Cassandrini; Michela Cassanello; Ubaldo Caruso; Cristiano Rizzo; Teresa Rizza; Matteo L Napolitano; Ronald J A Wanders; Cornelis Jakobs; Claudio Bruno; Filippo M Santorelli; Carlo Dionisi Vici; Eugenio Bonioli
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.

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All Publications

2011: Diego Martinelli; Federica Deodato; Carlo Dionisi Vici
Cobalamin C defect: natural history, pathophysiology, and treatment.
Journal of inherited metabolic disease 2011;34(1):127-35.
2008: Serena Grossi; Stefano Regis; Camillo Rosano; Fabio Corsolini; Graziella Uziel; Maria Sessa; Maja Di Rocco; Giancarlo Parenti; Federica Deodato; Vincenzo Leuzzi; Roberta Biancheri; Mirella Filocamo
Molecular analysis of ARSA and PSAP genes in twenty-one Italian patients with metachromatic leukodystrophy: identification and functional characterization of 11 novel ARSA alleles.
Human mutation 2008;29(11):E220-30.
2008: Rosalba Carrozzo; Carlo Bellini; Simona Lucioli; Federica Deodato; Denise Cassandrini; Michela Cassanello; Ubaldo Caruso; Cristiano Rizzo; Teresa Rizza; Matteo L Napolitano; Ronald J A Wanders; Cornelis Jakobs; Claudio Bruno; Filippo M Santorelli; Carlo Dionisi Vici; Eugenio Bonioli
Peroxisomal acyl-CoA-oxidase deficiency: two new cases.
American journal of medical genetics. Part A 2008;146A(13):1676-81.
2008: Célia Nogueira; Chiara Aiello; Roberto Cerone; Esmeralda Martins; Ubaldo Caruso; Isabella Moroni; Cristiano Rizzo; Luísa Diogo; Elisa Leão; Fernando Kok; Federica Deodato; Maria Cristina Schiaffino; Sara Boenzi; Olivier Danhaive; Clara Barbot; Sílvia Sequeira; Mattia Locatelli; Filippo M Santorelli; Graziella Uziel; Laura Vilarinho; Carlo Dionisi Vici
Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Molecular genetics and metabolism 2008;93(4):475-80.
2008: Daniela Longo; Luciana Delfino; Elisabetta Genovese; Vittorio Cannatà; Federica Deodato; Carlo Dionisi Vici; Bianca Goffredo; Giuseppe Fariello
MRI findings in an adolescent with type I citrullinaemia.
Pediatric radiology 2008;38(2):237-40.
2007: Vincenzo Leuzzi; Maria Lucia Di Sabato; Federica Deodato; Cristiano Rizzo; Sara Boenzi; Carla Carducci; Patrizia Malaspina; C Liberanome; Carlo Dionisi Vici
Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency.
Neurology 2007;68(16):1320-1.
2007: Rosalba Carrozzo; Carlo Dionisi Vici; Ulrike Steuerwald; Simona Lucioli; Federica Deodato; Sivia Di Giandomenico; Enrico Bertini; Barbara Franke; Leo A J Kluijtmans; Maria Chiara Meschini; Cristiano Rizzo; Fiorella Piemonte; Richard J T Rodenburg; René Santer; Filippo M Santorelli; Arno van Rooij; Diana Vermunt-de Koning; Eva Morava; Ron A Wevers
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.
Brain : a journal of neurology 2007;130(Pt 3):862-74.
2006: Gabriella Di Rosa; Federica Deodato; Ference J Loupatty; Cristiano Rizzo; Rosalba Carrozzo; Filippo M Santorelli; Sara Boenzi; Adele D'Amico; Giulia Tozzi; Enrico Bertini; Andrea Maiorana; Ronald J A Wanders; Carlo Dionisi Vici
Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: a novel subtype of 3-methylglutaconic aciduria.
Journal of inherited metabolic disease 2006;29(4):546-50.
2006: Federica Deodato; Sara Boenzi; Filippo M Santorelli; Carlo Dionisi Vici
Methylmalonic and propionic aciduria.
American journal of medical genetics. Part C, Seminars in medical genetics 2006;142C(2):104-12.
2006: Carlo Dionisi Vici; Federica Deodato; Wulf Röschinger; William Rhead; Bridget Wilcken
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry.
Journal of inherited metabolic disease 2006;29(2-3):383-9.
2006: Paola Blasi; Francesca Palmerio; caldarola sara; Cristiano Rizzo; R Carrozzo; K Michael Gibson; Andrea Novelletto; Federica Deodato; M Cappa; C Dioni-Vici; Patrizia Malaspina
Succinic semialdehyde dehydrogenase deficiency: clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation.
Clinical genetics 2006;69(3):294-6.
2006: Cecilia Mir; E Lopez-Viñas; Rosa Aledo; Beatriz Puisac; Cristiano Rizzo; Carlo Dionisi Vici; Federica Deodato; Juan Pié; Paulino Gomez-Puertas; Fausto G Hegardt; Núria Casals
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
Journal of inherited metabolic disease 2006;29(1):64-70.
2005: Daniela Longo; Giuseppe Fariello; Carlo Dionisi Vici; V Cannatà; Sara Boenzi; E Genovese; Federica Deodato
MRI and 1H-MRS findings in early-onset cobalamin C/D defect.
Neuropediatrics 2005;36(6):366-72.
2005: Daniela Ricci; Marika Pane; Federica Deodato; Gessica Vasco; Teresa Randò; S Caviglia; Carlo Dionisi Vici; Eugenio Mercuri
Assessment of visual function in children with methylmalonic aciduria and homocystinuria.
Neuropediatrics 2005;36(3):181-5.
2004: Federica Deodato; Sara Boenzi; Cristiano Rizzo; Damiano Abeni; S Caviglia; Stefano Picca; A Bartuli; Carlo Dionisi Vici
Inborn errors of metabolism: an update on epidemiology and on neonatal-onset hyperammonemia.
Acta paediatrica (Oslo, Norway : 1992). Supplement 2004;93(445):18-21.
2002: Anne Fogli; Carlo Dionisi Vici; Federica Deodato; A Bartuli; Odile Boespflug-Tanguy; Enrico Bertini
A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation.
Neurology 2002;59(12):1966-8.
2002: Francesco Guzzetta; Domenica Battaglia; Donatella Lettori; Federica Deodato; Emanuela Sani; Teresa Randò; Daniela Ricci; Celeste Acquafondata; Carmine Faienza
Epileptic negative myoclonus in a newborn with hemimegalencephaly.
Epilepsia 2002;43(9):1106-9.
2002: Federica Deodato; Cristiano Rizzo; Sara Boenzi; F Baiocco; Gaetano Sabetta; Carlo Dionisi Vici
Successful pregnancy in a woman with mut- methylmalonic acidaemia.
Journal of inherited metabolic disease 2002;25(2):133-4.
2002: Federica Deodato; M Sabatelli; E Ricci; Eugenio Mercuri; Francesco Muntoni; Caroline Sewry; IS Naom; P Tonali; Francesco Guzzetta
Hypermyelinating neuropathy, mental retardation and epilepsy in a case of merosin deficiency.
Neuromuscular disorders : NMD 2002;12(4):392-8.
2000: Francesco Guzzetta; Federica Deodato; Teresa Randò
Brain ischemic lesions of the newborn.
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery 2000;16(10-11):633-7.
1999: Domenica Battaglia; Teresa Randò; Federica Deodato; G Bruccini; G Baglio; Maria Flavia Frisone; T Pantò; G Tortorella; Francesco Guzzetta
Epileptic disorders with onset in the first year of life: neurological and cognitive outcome.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 1999;3(3):95-103.