Torthaí cuardaigh - Carlo Dionisi‐Vici

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  1. 1
    Cobalamin C defect: natural history, pathophysiology, and treatment

    Cobalamin C defect: natural history, pathophysiology, and treatment de réir Diego Martinelli, Federica Deodato, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2010
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  2. 2
    Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implications in other metabolic disorders

    Current understanding on pathogenesis and effective treatment of glycogen storage disease type Ib with empagliflozin: new insights coming from diabetes for its potential implicatio... de réir Arianna Maiorana, Francesco Tagliaferri, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2023
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  3. 3
    Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

    Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI de réir Miriam Massese, Francesco Tagliaferri, Carlo Dionisi‐Vici, Arianna Maiorana

    Foilsithe / Cruthaithe 2022
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  4. 4
    Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency

    Case Report: Two years of compassionate use with Olipudase-alfa in a child with neurovisceral acid sphingomyelinase deficiency de réir Federica Deodato, Sara Boenzi, Benedetta Greco, Alessia Graziosi, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2025
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  5. 5
    ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry

    ‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spe... de réir Carlo Dionisi‐Vici, Federica Deodato, Wulf Röschinger, William J. Rhead, Bridget Wilcken

    Foilsithe / Cruthaithe 2006
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  6. 6
    Vici syndrome: a review

    Vici syndrome: a review de réir Susan Byrne, Carlo Dionisi‐Vici, Luke J. Smith, Mathias Gautel, Heinz Jungbluth

    Foilsithe / Cruthaithe 2016
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  7. 7
    Differential diagnosis of food protein-induced enterocolitis syndrome

    Differential diagnosis of food protein-induced enterocolitis syndrome de réir Alessandro Fiocchi, Alessia Claps, Lamia Dahdah, Giulia Brindisi, Carlo Dionisi‐Vici, Alberto M. Martelli

    Foilsithe / Cruthaithe 2014
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  8. 8
    Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism

    Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism de réir Sara Boenzi, Federica Deodato, Roberta Taurisano, Bianca Maria Goffredo, Cristiano Rizzo, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2016
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  9. 9
    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome

    Neurological aspects of hyperinsulinism–hyperammonaemia syndrome de réir Nadia Bahi‐Buisson, Emmanuel Roze, Carlo Dionisi‐Vici, Fabienne Escande, Vassili Valayannopoulos, François Feillet, Claudine Heinrichs

    Foilsithe / Cruthaithe 2008
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  10. 10
    The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome

    The hyperornithinemia–hyperammonemia-homocitrullinuria syndrome de réir Diego Martinelli, Daria Diodato, Emanuela Ponzi, Magnus Monné, Sara Boenzi, Enrico Bertini, Giuseppe Fiermonte, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2015
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  11. 11
    Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage

    Plasma Levels of Homocysteine and Cysteine Increased in Pediatric NAFLD and Strongly Correlated with Severity of Liver Damage de réir Anna Pastore, Anna Alisi, Gianna Di Giovamberardino, Annalisa Crudele, Sara Ceccarelli, Nadia Panera, Carlo Dionisi‐Vici, Valério Nobili

    Foilsithe / Cruthaithe 2014
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  12. 12
    The Mitochondrial Ornithine Transporter

    The Mitochondrial Ornithine Transporter de réir Giuseppe Fiermonte, Vincenza Dolce, L Garbers David, Filippo M. Santorelli, Carlo Dionisi‐Vici, Ferdinando Palmieri, John E. Walker

    Foilsithe / Cruthaithe 2003
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  13. 13
    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data

    Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data de réir Femke Molema, Diego Martinelli, Friederike Hörster, Stefan Kölker, Trine Tangeraas, Barbara de Koning, Carlo Dionisi‐Vici, Monique Williams

    Foilsithe / Cruthaithe 2020
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  14. 14
    Arginase 1 deficiency: a treatable form of spastic paraplegia

    Arginase 1 deficiency: a treatable form of spastic paraplegia de réir Alessandro P. Burlina, Anna Ardissone, Roberta Battini, Alberto Burlina, Serena Gasperini, Andrea Pession, Francesco Porta, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2025
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  15. 15
    Immunodeficiency in Vici syndrome: A heterogeneous phenotype

    Immunodeficiency in Vici syndrome: A heterogeneous phenotype de réir Andrea Finocchi, Giulia Angelino, Nicoletta Cantarutti, Maurizio Corbari, Elsa Bevivino, Simona Cascioli, Francesco Randisi, Enrico Bertini, Carlo Dionisi‐Vici

    Foilsithe / Cruthaithe 2011
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  16. 16
    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy

    Congenital disorders of glycosylation presenting as epileptic encephalopathy with migrating partial seizures in infancy de réir Carmen Barba, Francesca Darra, Raffaella Cusmai, Elena Procopio, Carlo Dionisi‐Vici, Liesbeth Keldermans, Sandrine Vuillaumier‐Barrot, Dirk J. Lefeber, Renzo Guerrini

    Foilsithe / Cruthaithe 2016
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  17. 17
    Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS

    Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS de réir Giulia Polo, Alessandro P. Burlina, Thilini B. Kolamunnage, Michele Zampieri, Carlo Dionisi‐Vici, Pietro Strisciuglio, Martina Zaninotto, Mario Plebani, Alberto Burlina

    Foilsithe / Cruthaithe 2017
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  18. 18
    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects

    Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects de réir Julien Baruteau, Carmen Dı́ez-Fernández, Shaul Lerner, Giusy Ranucci, Paul Gissen, Carlo Dionisi‐Vici, Sandesh C.S. Nagamani, Ayelet Erez, Johannes Häberle

    Foilsithe / Cruthaithe 2019
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  19. 19
    Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neonatal Age

    Therapeutic Drug Monitoring Is a Feasible Tool to Personalize Drug Administration in Neonates Using New Techniques: An Overview on the Pharmacokinetics and Pharmacodynamics in Neon... de réir Domenico Umberto De Rose, Sara Cairoli, Marco Dionisi, Alessandra Santisi, Luca Massenzi, Bianca Maria Goffredo, Carlo Dionisi‐Vici, Andrea Dotta, Cinzia Auriti

    Foilsithe / Cruthaithe 2020
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  20. 20
    Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

    Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study de réir Luca, Pasquini, Alessia, Guarnera, Camilla, Rossi-Espagnet Maria, Antonio, Napolitano, Diego, Martinelli, Federica, Deodato, Daria, Diodato, Rosalba, Carrozzo, Carlo, Dionisi-Vici, Daniela, Longo

    Foilsithe / Cruthaithe 2020
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