• 1132 Citations
  • 17 h-Index
20022019
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Research Output 2002 2019

  • 1132 Citations
  • 17 h-Index
  • 44 Article
  • 2 Review article
2019

Pain REduction with bone metastases STereotactic radiotherapy (PREST): A phase III randomized multicentric trial

Cellini, F., Manfrida, S., Deodato, F., Cilla, S., Maranzano, E., Pergolizzi, S., Arcidiacono, F., Di Franco, R., Pastore, F., Muto, M., Borzillo, V., Donati, C. M., Siepe, G., Parisi, S., Salatino, A., D'Agostino, A., Montesi, G., Santacaterina, A., Fusco, V., Santarelli, M. & 6 others, Gambacorta, M. A., Corvò, R., Morganti, A. G., Masiello, V., Muto, P. & Valentini, V., 2019, In : Trials. 20, 1

Research output: Contribution to journalArticle

Mucopolysaccharidosis I
Iduronidase
Transgenes
Genetic Therapy
Hematopoietic Stem Cells
2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy

Diodato, D., Olivieri, G., Pro, S., Maiorani, D., Martinelli, D., Deodato, F., Taurisano, R., Di Capua, M. & Dionisi-Vici, C., Sep 18 2018, In : Neurology. 91, 12, p. 565-567 3 p.

Research output: Contribution to journalArticle

Enzyme replacement therapy: efficacy and limitations

Concolino, D., Deodato, F. & Parini, R., Nov 16 2018, In : Italian Journal of Pediatrics. 44, Suppl 2, p. 120 10 p.

Research output: Contribution to journalReview article

Enzyme Replacement Therapy
Mucopolysaccharidosis II
Mucopolysaccharidosis I
Mucopolysaccharidosis VI
Mucopolysaccharidoses

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Parini, R., De Lorenzo, P., Dardis, A., Burlina, A., Cassio, A., Cavarzere, P., Concolino, D., Della Casa, R., Deodato, F., Donati, M. A., Fiumara, A., Gasperini, S., Menni, F., Pagliardini, V., Sacchini, M., Spada, M., Taurisano, R., Valsecchi, M. G., Di Rocco, M. & Bembi, B., 2018, In : Orphanet Journal of Rare Diseases. 13, 1

Research output: Contribution to journalArticle

12 Citations (Scopus)

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Parini, R., De Lorenzo, P., Dardis, A., Burlina, A., Cassio, A., Cavarzere, P., Concolino, D., Della Casa, R., Deodato, F., Donati, M. A., Fiumara, A., Gasperini, S., Menni, F., Pagliardini, V., Sacchini, M., Spada, M., Taurisano, R., Valsecchi, M. G., Di Rocco, M. & Bembi, B., Feb 8 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 32.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Multicenter Studies
Age of Onset
Neuroimaging

Long term clinical history of an Italian cohort of infantile onset Pompe disease treated with enzyme replacement therapy

Parini, R., De Lorenzo, P., Dardis, A., Burlina, A., Cassio, A., Cavarzere, P., Concolino, D., Della Casa, R., Deodato, F., Donati, M. A., Fiumara, A., Gasperini, S., Menni, F., Pagliardini, V., Sacchini, M., Spada, M., Taurisano, R., Valsecchi, M. G., Di Rocco, M. & Bembi, B., Feb 8 2018, In : Orphanet Journal of Rare Diseases. 13, 1, 12 p., 32.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Enzyme Replacement Therapy
Multicenter Studies
Age of Onset
Neuroimaging

microRNAs as biomarkers in Pompe disease

Tarallo, A., Carissimo, A., Gatto, F., Nusco, E., Toscano, A., Musumeci, O., Coletta, M., Karali, M., Acampora, E., Damiano, C., Minopoli, N., Fecarotta, S., Della Casa, R., Mongini, T., Vercelli, L., Santoro, L., Ruggiero, L., Deodato, F., Taurisano, R., Bembi, B. & 5 others, Dardis, A., Banfi, S., Pijnappel, W. W. P., van der Ploeg, A. T. & Parenti, G., Jul 12 2018, In : Genetics in Medicine. 10 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
MicroRNAs
Biomarkers
Enzyme Replacement Therapy
Muscular Atrophy

Mis-splicing of the GALNS gene resulting from deep intronic mutations as a cause of Morquio a disease

Caciotti, A., Tonin, R., Mort, M., Cooper, D. N., Gasperini, S., Rigoldi, M., Parini, R., Deodato, F., Taurisano, R., Sibilio, M., Parenti, G., Guerrini, R. & Morrone, A., Oct 11 2018, In : BMC Medical Genetics. 19, 1, p. 183

Research output: Contribution to journalArticle

N-acetylglucosamine-6-sulfatase
Mucopolysaccharidosis IV
Galactosamine
Mutation
Genes

Presenting signs and patient co-variables in Gaucher disease: outcome of the Gaucher Early Diagnosis Consensus (GED-C) Delphi initiative

Mehta, A., Kuter, D. J., Salek, S. S., Belmatoug, N., Bembi, B., Bright, J., Vom Dahl, S., Deodato, F., Di Rocco, M., Goker-Alpan, O., Hughes, D. A., Lukina, E. A., Machaczka, M., Mengel, E., Nagral, A., Nakamura, K., Narita, A., Oliveri, B., Pastores, G., Pérez-López, J. & 5 others, Ramaswami, U., Schwartz, I. V., Szer, J., Weinreb, N. J. & Zimran, A., Nov 10 2018, In : Internal Medicine Journal.

Research output: Contribution to journalArticle

Gaucher Disease
Early Diagnosis
Consensus
Hepatomegaly
Splenomegaly
Type A Niemann-Pick Disease
Niemann-Pick Diseases
Sphingomyelin Phosphodiesterase
Biomarkers
Sphingolipids
2017
7 Citations (Scopus)

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

Pichiecchio, A., Rossi, M., Cinnante, C., Colafati, G. S., De Icco, R., Parini, R., Menni, F., Furlan, F., Burlina, A., Sacchini, M., Donati, M. A., Fecarotta, S., Casa, R. D., Deodato, F., Taurisano, R. & Di Rocco, M., 2017, In : Muscle and Nerve. 55, 6, p. 841-848 8 p.

Research output: Contribution to journalArticle

7 Citations (Scopus)

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

Pichiecchio, A., Rossi, M., Cinnante, C., Colafati, G. S., De Icco, R., Parini, R., Menni, F., Furlan, F., Burlina, A., Sacchini, M., Donati, M. A., Fecarotta, S., Casa, R. D., Deodato, F., Taurisano, R. & Di Rocco, M., 2017, In : Muscle and Nerve. 55, 6, p. 841-848 8 p.

Research output: Contribution to journalArticle

Edema
Muscles
Tongue
Lower Extremity
Glycogen Storage Disease Type II
17 Citations (Scopus)

Open issues in Mucopolysaccharidosis type I-Hurler

Parini, R., Deodato, F., Di Rocco, M., Lanino, E., Locatelli, F., Messina, C., Rovelli, A. & Scarpa, M., Jan 1 2017, In : Orphanet Journal of Rare Diseases. 12, 1, 112.

Research output: Contribution to journalReview article

Mucopolysaccharidosis I
Hematopoietic Stem Cell Transplantation
Transplants
Iduronidase
Newborn Infant
5 Citations (Scopus)

The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression

Deodato, F., Procopio, E., Rampazzo, A., Taurisano, R., Donati, M. A., Dionisi-Vici, C., Caciotti, A., Morrone, A. & Scarpa, M., Oct 1 2017, In : Metabolic Brain Disease. 32, 5, p. 1529-1536 8 p.

Research output: Contribution to journalArticle

GM1 Gangliosidosis
Disease Progression
Enzyme activity
Therapeutics
Walking
2016
8 Citations (Scopus)

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi-Vici, C., Clementi, E. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

Deferasirox-induced serious adverse reaction in a pediatric patient: Pharmacokinetic and pharmacogenetic analysis

Marano, M., Bottaro, G., Goffredo, B. M., Stoppa, F., Pisani, M., Marinaro, A. M., Deodato, F., Dionisi Vici, C., Clementi, E. G. I. & Falvella, F. S., Feb 1 2016, In : European Journal of Clinical Pharmacology. 72, 2, p. 247-248 2 p.

Research output: Contribution to journalArticle

31 Citations (Scopus)
Metabolism
Cholesterol
Sterol Esterase
Plasmas
Biomarkers

Muscle MRI of classic infantile pompe patients: Fatty substitution and edema-like changes

Pichiecchio, A., Rossi, M., Cinnante, C., Colafati, G. S., De Icco, R., Parini, R., Menni, F., Furlan, F., Burlina, A. B., Sacchini, M., Donati, M. A., Fecarotta, S., Casa, R. D., Deodato, F., Taurisano, R. & Di Rocco, M., Sep 26 2016, In : Muscle and Nerve.

Research output: Contribution to journalArticle

Edema
Muscles
Tongue
Lower Extremity
Glycogen Storage Disease Type II
2015
30 Citations (Scopus)

Long term follow-up to evaluate the efficacy of miglustat treatment in Italian patients with Niemann-Pick disease type C

Fecarotta, S., Romano, A., Della Casa, R., Del Giudice, E., Bruschini, D., Mansi, G., Bembi, B., Dardis, A., Fiumara, A., Di Rocco, M., Uziel, G., Ardissone, A., Roccatello, D., Alpa, M., Bertini, E., D'Amico, A., Dionisi-Vici, C., Deodato, F., Caviglia, S., Federico, A. & 7 others, Palmeri, S., Gabrielli, O., Santoro, L., Filla, A., Russo, C., Parenti, G. & Andria, G., Feb 27 2015, (Accepted/In press) In : Orphanet Journal of Rare Diseases. p. 1-11 11 p.

Research output: Contribution to journalArticle

Type C Niemann-Pick Disease
Neurologic Manifestations
Dysarthria
Cerebellar Ataxia
Dystonia
2014
36 Citations (Scopus)
Type C Niemann-Pick Disease
Ionization
Esters
Filipin
Plasmas
59 Citations (Scopus)

Clinical presentation and outcome in a series of 88 patients with the cblC defect

Fischer, S., Huemer, M., Baumgartner, M., Deodato, F., Ballhausen, D., Boneh, A., Burlina, A. B., Cerone, R., Garcia, P., Gökçay, G., Grünewald, S., Häberle, J., Jaeken, J., Ketteridge, D., Lindner, M., Mandel, H., Martinelli, D., Martins, E. G., Schwab, K. O., Gruenert, S. C. & 8 others, Schwahn, B. C., Sztriha, L., Tomaske, M., Trefz, F., Vilarinho, L., Rosenblatt, D. S., Fowler, B. & Dionisi-Vici, C., Sep 1 2014, In : Journal of Inherited Metabolic Disease. 37, 5, p. 831-840 10 p.

Research output: Contribution to journalArticle

Methionine
Hydroxocobalamin
Physicians
Betaine
Lethargy
12 Citations (Scopus)

Early diagnosis of Gaucher disease in pediatric patients: Proposal for a diagnostic algorithm

Di Rocco, M., Andria, G., Deodato, F., Giona, F., Micalizzi, C. & Pession, A., Nov 1 2014, In : Pediatric Blood and Cancer. 61, 11, p. 1905-1909 5 p.

Research output: Contribution to journalArticle

Gaucher Disease
Early Diagnosis
Pediatrics
Glycolipids
Signs and Symptoms
6 Citations (Scopus)

Immune tolerance induced using plasma exchange and rituximab in an infantile pompe disease patient

Deodato, F., Ginocchio, V. M., Onofri, A., Grutter, G., Germani, A. & Dionisi-Vici, C., 2014, In : Journal of Child Neurology. 29, 6, p. 850-854 5 p.

Research output: Contribution to journalArticle

Glycogen Storage Disease Type II
Glucosidases
Immune Tolerance
Plasma Exchange
Acids
13 Citations (Scopus)

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

Taurisano, R., Maiorana, A., De Benedetti, F., Dionisi-Vici, C., Boldrini, R. & Deodato, F., Sep 12 2014, In : European Journal of Pediatrics. 173, 10, p. 1391-1394 4 p.

Research output: Contribution to journalArticle

Wolman Disease
Hemophagocytic Lymphohistiocytosis
Cholesterol Esters
Lysosomes
Triglycerides
2013
14 Citations (Scopus)

Efficacy of Miglustat in Niemann-Pick C disease: A single centre experience

Ginocchio, V. M., D'Amico, A., Bertini, E., Ceravolo, F., Dardis, A., Verrigni, D., Bembi, B., Dionisi-Vici, C. & Deodato, F., Nov 2013, In : Molecular Genetics and Metabolism. 110, 3, p. 329-335 7 p.

Research output: Contribution to journalArticle

Niemann-Pick Diseases
Disease Progression
Type C Niemann-Pick Disease
Lysosomal Storage Diseases
Deglutition
2011
84 Citations (Scopus)
Vitamin B 12
Natural History
Therapeutics
Homocysteine
Methionine
2009
39 Citations (Scopus)

Identification of novel mutations in the SLC25A15 Gene in hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome: A clinical, molecular, and functional study

Tessa, A., Fiermonte, G., Dionisi-Vici, C., Paradies, E., Baumgartner, M. R., Chien, Y. H., Loguercio, C., De Baulny, H. O., Nassogne, M. C., Schiff, M., Deodato, F., Parenti, G., Rutledge, S. L., Antonia Vilaseca, M., Melone, M. A. B., Scarano, G., Aldamiz-Echevarria, L., Besley, G., Walter, J., Martinez-Hernandez, E. & 4 others, Hernandez, J. M., Pierri, C. L., Palmieri, F. & Santorelli, F. M., May 2009, In : Human Mutation. 30, 5, p. 741-748 8 p.

Research output: Contribution to journalArticle

Mutation
Origin Recognition Complex
Inborn Urea Cycle Disorder
Genes
Founder Effect
2008
19 Citations (Scopus)
Cerebroside-Sulfatase
Metachromatic Leukodystrophy
Saposins
Alleles
Genes

MRI findings in an adolescent with type I citrullinaemia

Longo, D., Delfino, L., Genovese, E., Cannatà, V., Deodato, F., Dionisi-Vici, C., Goffredo, B. & Fariello, G., Feb 2008, In : Pediatric Radiology. 38, 2, p. 237-240 4 p.

Research output: Contribution to journalArticle

Citrullinemia
Parietal Lobe
Brain Diseases
Thalamus
Brain Injuries
18 Citations (Scopus)

Peroxisomal acyl-CoA-oxidase deficiency: Two new cases

Carrozzo, R., Bellini, C., Lucioli, S., Deodato, F., Cassandrini, D., Cassanello, M., Caruso, U., Rizzo, C., Rizza, T., Napolitano, M. L., Wanders, R. J. A., Jakobs, C., Bruno, C., Santorelli, F. M., Dionisi-Vici, C. & Bonioli, E., Jul 1 2008, In : American Journal of Medical Genetics, Part A. 146, 13, p. 1676-1681 6 p.

Research output: Contribution to journalArticle

Acyl-CoA Oxidase
Mutation
Exons
Phytanic Acid
Plasmalogens
59 Citations (Scopus)

Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type

Nogueira, C., Aiello, C., Cerone, R., Martins, E., Caruso, U., Moroni, I., Rizzo, C., Diogo, L., Leão, E., Kok, F., Deodato, F., Schiaffino, M. C., Boenzi, S., Danhaive, O., Barbot, C., Sequeira, S., Locatelli, M., Santorelli, F. M., Uziel, G., Vilarinho, L. & 1 others, Dionisi-Vici, C., Apr 2008, In : Molecular Genetics and Metabolism. 93, 4, p. 475-480 6 p.

Research output: Contribution to journalArticle

Defects
Mutation
Homocysteine
Genes
Genetic Association Studies
6 Citations (Scopus)
Homocystinuria
Vitamin B 12
Intellectual Disability
Atrophic Gastritis
Failure to Thrive
2007
126 Citations (Scopus)

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness

Carrozzo, R., Dionisi-Vici, C., Steuerwald, U., Lucioli, S., Deodato, F., Di Giandomenico, S., Bertini, E., Franke, B., Kluijtmans, L. A. J., Meschini, M. C., Rizzo, C., Piemonte, F., Rodenburg, R., Santer, R., Santorelli, F. M., Van Rooij, A., Vermunt-De Koning, D., Morava, E. & Wevers, R. A., Mar 2007, In : Brain. 130, 3, p. 862-874 13 p.

Research output: Contribution to journalArticle

Dystonia
Deafness
Mutation
Lactic Acidosis
Methylmalonic Acid
16 Citations (Scopus)

Vigabatrin improves paroxysmal dystonia in succinic semialdehyde dehydrogenase deficiency

Leuzzi, V., Di Sabato, M. L., Deodato, F., Rizzo, C., Boenzi, S., Carducci, C., Malaspina, P., Liberanome, C. & Dionisi-Vici, C., Apr 2007, In : Neurology. 68, 16, p. 1320-1321 2 p.

Research output: Contribution to journalArticle

2006
3 Citations (Scopus)

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

Mir, C., Lopez-Viñas, E., Aledo, R., Puisac, B., Rizzo, C., Dionisi-Vici, C., Deodato, F., Pié, J., Gomez-Puertas, P., Hegardt, F. G. & Casals, N., Feb 2006, In : Journal of Inherited Metabolic Disease. 29, 1, p. 64-70 7 p.

Research output: Contribution to journalArticle

Structural Models
Mutation
Missense Mutation
Enzymes
Inborn Genetic Diseases
149 Citations (Scopus)
Propionic Acidemia
Tandem Mass Spectrometry
Newborn Infant
Neonatal Screening
Mass Screening
15 Citations (Scopus)

Hypertrophic cardiomyopathy, cataract, developmental delay, lactic acidosis: A novel subtype of 3-methylglutaconic aciduria

Di Rosa, G., Deodato, F., Loupatty, F. J., Rizzo, C., Carrozzo, R., Santorelli, F. M., Boenzi, S., D'Amico, A., Tozzi, G., Bertini, E., Maiorana, A., Wanders, R. J. A. & Dionisi-Vici, C., Aug 2006, In : Journal of Inherited Metabolic Disease. 29, 4, p. 546-550 5 p.

Research output: Contribution to journalArticle

Lactic Acidosis
methylglutaconyl-CoA hydratase
Hypertrophic Cardiomyopathy
Leucine
Phenotype
166 Citations (Scopus)

Methylmalonic propionic aciduria

Deodato, F., Boenzi, S., Santorelli, F. M. & Dionisi-Vici, C., May 15 2006, In : American Journal of Medical Genetics, Part C: Seminars in Medical Genetics. 142 C, 2, p. 104-112 9 p.

Research output: Contribution to journalArticle

Propionic Acidemia
Methylmalonyl-CoA Mutase
Methylmalonyl-CoA Decarboxylase
Neonatal Screening
Mortality
8 Citations (Scopus)

Succinic semialdehyde dehydrogenase deficiency: Clinical, biochemical and molecular characterization of a new patient with severe phenotype and a novel mutation [4]

Blasi, P., Palmerio, F., Caldarola, S., Rizzo, C., Carrozzo, R., Gibson, K. M., Novelletto, A., Deodato, F., Cappa, M., Dionisi-Vici, C. & Malaspina, P., Mar 2006, In : Clinical Genetics. 69, 3, p. 294-296 3 p.

Research output: Contribution to journalArticle

2005
18 Citations (Scopus)

Assessment of visual function in children with methylmalonic aciduria and homocystinuria

Ricci, D., Pane, M., Deodato, F., Vasco, G., Randò, T., Caviglia, S., Dionisi-Vici, C. & Mercuri, E., Jun 2005, In : Neuropediatrics. 36, 3, p. 181-185 5 p.

Research output: Contribution to journalArticle

Homocystinuria
Vision Disorders
Strabismus
Brain
Hydrocephalus
36 Citations (Scopus)

MRI and 1H-MRS findings in early-onset cobalamin C/D defect

Longo, D., Fariello, G., Dionisi-Vici, C., Cannatà, V., Boenzi, S., Genovese, E. & Deodato, F., Dec 2005, In : Neuropediatrics. 36, 6, p. 366-372 7 p.

Research output: Contribution to journalArticle

Vitamin B 12
Basal Ganglia
Hydrocephalus
Homocystinuria
Inborn Errors Metabolism
2004
29 Citations (Scopus)
Hyperammonemia
Inborn Errors Metabolism
Epidemiology
Neonatal Screening
Morbidity
2002
56 Citations (Scopus)

A severe variant of childhood ataxia with central hypomyelination/vanishing white matter leukoencephalopathy related to EIF21B5 mutation

Fogli, A., Dionisi-Vici, C., Deodato, F., Bartuli, A., Boespflug-Tanguy, O. & Bertini, E., Dec 24 2002, In : Neurology. 59, 12, p. 1966-1968 3 p.

Research output: Contribution to journalArticle

Leukoencephalopathies
Ataxia
Guanosine Diphosphate Sugars
Eukaryotic Initiation Factors
Mutation
10 Citations (Scopus)

Epileptic negative myoclonus in a newborn with hemimegalencephaly

Guzzetta, F., Battaglia, D., Lettori, D., Deodato, F., Sani, E., Randò, T., Ricci, D., Acquafondata, C. & Faienza, C., Sep 2002, In : Epilepsia. 43, 9, p. 1106-1109 4 p.

Research output: Contribution to journalArticle

Myoclonus
Electroencephalography
Spasm
Seizures
Hemimegalencephaly
18 Citations (Scopus)

Successful pregnancy in a woman with mut- Methylmalonic acidaemia

Deodato, F., Rizzo, C., Boenzi, S., Baiocco, F., Sabetta, G. & Dionisi-Vici, C., 2002, In : Journal of Inherited Metabolic Disease. 25, 2, p. 133-134 2 p.

Research output: Contribution to journalArticle

Pregnancy
Carnitine
Vitamin B 12
Postpartum Period
Parturition