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ArticlesPeer ReviewedFull Text
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
Author / Creator:Siri, Barbara ; Olivieri, Giorgia ; Lepri, Francesca Romana ; Poms, Martin ; Goffredo, Bianca Maria ; Commone, Anna ; Novelli, Antonio ; Häberle, Johannes ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2024-01, Vol.19 (1), p.3-8, Article 3
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ArticlesPeer ReviewedFull Text
A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
Author / Creator:Semeraro, Michela ; Sacchetti, Elisa ; Deodato, Federica ; Coşkun, Turgay ; Lay, Incilay ; Catesini, Giulio ; Olivieri, Giorgia ; Rizzo, Cristiano ; Boenzi, Sara ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-01, Vol.16 (1), p.24-11, Article 24
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ArticlesPeer ReviewedFull Text
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
Author / Creator:Olivieri, Giorgia ; Pro, Stefano ; Diodato, Daria ; Di Capua, Matteo ; Longo, Daniela ; Martinelli, Diego ; Bertini, Enrico ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.208-9, Article 208
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ArticlesPeer ReviewedFull Text
Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
Author / Creator:Olivieri, Giorgia ; Martinelli, Diego ; Longo, Daniela ; Grimaldi, Chiara ; Liccardo, Daniela ; Di Meo, Ivano ; Pietrobattista, Andrea ; Sidorina, Anna ; Semeraro, Michela ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-05, Vol.16 (1), p.229-9, Article 229
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ArticlesPeer ReviewedFull Text
Antibiotic Prophylaxis in the Prevention of Postoperative Infections in Mandibular Third Molar Extractions: Systematic Review and Meta-Analysis
Author / Creator:Lupi, Saturnino Marco ; Olivieri, Giorgia ; Landini, Jessica ; Ferrigno, Andrea ; Richelmi, Plinio ; Todaro, Claudia ; Rodriguez y Baena, Ruggero
Publisher:Basel: MDPI AG
Journal title:Applied sciences, 2021-10, Vol.11 (20), p.9449
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ArticlesPeer ReviewedFull Text
Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children
Author / Creator:Galeotti, Angela ; De Rosa, Sara ; Uomo, Roberto ; Dionisi-Vici, Carlo ; Deodato, Federica ; Taurisano, Roberta ; Olivieri, Giorgia ; Festa, Paola
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-11, Vol.15 (1), p.1, Article 329
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ArticlesPeer ReviewedFull Text
Correlation between the Mandibular Lingula Position and Some Anatomical Landmarks in Cone Beam CT
Author / Creator:Lupi, Saturnino Marco ; Landini, Jessica ; Olivieri, Giorgia ; Todaro, Claudia ; Scribante, Andrea ; Rodriguez y Baena, Ruggero
Publisher:Switzerland: MDPI AG
Journal title:Healthcare (Basel), 2021-12, Vol.9 (12), p.1747
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ArticlesPeer ReviewedFull Text
Rituximab as a first-line treatment in pediatric neuromyelitis optica spectrum disorder
Author / Creator:Olivieri, Giorgia ; Nociti, Viviana ; Iorio, Raffaele ; Stefanini, Maria Chiara ; Losavio, Francesco Antonio ; Mirabella, Massimiliano ; Mariotti, Paolo
Publisher:Milan: Springer Milan
Journal title:Neurological sciences, 2015-12, Vol.36 (12), p.2301-2302
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ArticlesPeer ReviewedFull Text
Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases
Author / Creator:Posset, Roland ; Garbade, Sven F. ; Boy, Nikolas ; Burlina, Alberto B. ; Dionisi-Vici, Carlo ; Dobbelaere, Dries ; Garcia-Cazorla, Angeles ; de Lonlay, Pascale ; Teles, Elisa Leão ; Vara, Roshni ; Ah Mew, Nicholas ; Batshaw, Mark L. ; Baumgartner, Matthias R. ; McCandless, Shawn ; Seminara, Jennifer ; Summar, Marshall ; Hoffmann, Georg F. ; Kölker, Stefan ; Burgard, Peter
Publisher:United States: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-07, p.1-13
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ArticlesPeer ReviewedFull Text
Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry
Author / Creator:Huemer, Martina ; Diodato, Daria ; Martinelli, Diego ; Olivieri, Giorgia ; Blom, Henk ; Gleich, Florian ; Kölker, Stefan ; Kožich, Viktor ; Morris, Andrew A. ; Seifert, Burkhardt ; Froese, D. Sean ; Baumgartner, Matthias R. ; Dionisi-Vici, Carlo ; Alcalde Martin, C. ; Baethmann, M. ; Ballhausen, D. ; Blasco-Alonso, J. ; Boy, N. ; Bueno, M. ; Burgos Peláez, R. ; Cerone, R. ; Chabrol, B. ; Chapman, K. A. ; Couce, M. L. ; Crushell, E. ; Dalmau Serra, J. ; Diogo, L. ; Ficicioglu, C. ; García Jimenez, M. C. ; García Silva, M. T. ; Gaspar, A. M. ; Gautschi, M. ; González-Lamuño, D. ; Gouveia, S. ; Grünewald, S. ; Hendriksz, C. ; Janssen, M. C. H. ; Jesina, P. ; Koch, J. ; Konstantopoulou, V. ; Lavigne, C. ; Lund, A. M. ; Martins, E. G. ; Meavilla Olivas, S. ; Mention, K. ; Mochel, F. ; Mundy, H. ; Murphy, E. ; Paquay, S. ; Pedrón-Giner, C. ; Ruiz Gómez, M. A. ; Santra, S. ; Schiff, M. ; Schwartz, I. V. ; Scholl-Bürgi, S. ; Servais, A. ; Skouma, A. ; Tran, C. ; Vives Piñera, I. ; Walter, J. ; Weisfeld-Adams, J.
Publisher:United States: Blackwell Publishing Ltd
Journal title:Journal of inherited metabolic disease, 2018-09, p.1-19
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ArticlesPeer ReviewedFull Text
The forward parachute reaction and independent walking in infants with brain lesions: Forward Parachute Reaction in Children with Brain Lesions
Author / Creator:ROMEO, DOMENICO M ; RICCI, DANIELA ; BARANELLO, GIOVANNI ; PAGLIANO, EMANUELA ; BROGNA, CLAUDIA ; OLIVIERI, GIORGIA ; CONTALDO, ILARIA ; MAZZONE, DOMENICO ; QUINTILIANI, MICHELA ; TORRIOLI, MARIA GIULIA ; ROMEO, MARIO G ; MERCURI, EUGENIO
Journal title:Developmental medicine and child neurology, 2011-07, Vol.53 (7), p.636-640
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ArticlesPeer ReviewedFull Text
The forward parachute reaction and independent walking in infants with brain lesions
Author / Creator:ROMEO, DOMENICO M ; RICCI, DANIELA ; BARANELLO, GIOVANNI ; PAGLIANO, EMANUELA ; BROGNA, CLAUDIA ; OLIVIERI, GIORGIA ; CONTALDO, ILARIA ; MAZZONE, DOMENICO ; QUINTILIANI, MICHELA ; TORRIOLI, MARIA GIULIA ; ROMEO, MARIO G ; MERCURI, EUGENIO
Publisher:Oxford, UK: Blackwell Publishing Ltd
Journal title:Developmental medicine and child neurology, 2011-07, Vol.53 (7), p.636-640
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ReportsFull Text
Rituximab as a first-line treatment in pediatric neuromyelitis optica spectrum disorder
Author / Creator:Olivieri, Giorgia ; Nociti, Viviana ; Iorio, Raffaele ; Stefanini, Maria Chiara ; Losavio, Francesco Antonio ; Mirabella, Massimiliano ; Mariotti, Paolo
Journal title:Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2015, Vol.36 (12), p.2301-2302
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Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease

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A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders

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Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia

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Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient

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Antibiotic Prophylaxis in the Prevention of Postoperative Infections in Mandibular Third Molar Extractions: Systematic Review and Meta-Analysis

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Orofacial features and pediatric dentistry in the long-term management of Infantile Pompe Disease children

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Correlation between the Mandibular Lingula Position and Some Anatomical Landmarks in Cone Beam CT

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Rituximab as a first-line treatment in pediatric neuromyelitis optica spectrum disorder

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Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders—a successful strategy for clinical research of rare diseases

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: data from the E-HOD registry

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The forward parachute reaction and independent walking in infants with brain lesions: Forward Parachute Reaction in Children with Brain Lesions

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The forward parachute reaction and independent walking in infants with brain lesions

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Rituximab as a first-line treatment in pediatric neuromyelitis optica spectrum disorder

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