Works by Dionisi-Vici, Carlo

Results: 155

AP1S1 defect causing MEDNIK syndrome: a new adaptinopathy associated with defective copper metabolism.

Published in:

Annals of the New York Academy of Sciences, 2014, v. 1314, n. 1, p. 55, doi. 10.1111/nyas.12426

By:

Martinelli, Diego;
Dionisi‐Vici, Carlo

Publication type:

Article

A new HPLC–DAD method for contemporary quantification of 10 antibiotics for therapeutic drug monitoring of critically ill pediatric patients.

Published in:

Biomedical Chromatography, 2020, v. 34, n. 10, p. 1, doi. 10.1002/bmc.4880

By:

Cairoli, Sara;
Simeoli, Raffaele;
Tarchi, Marco;
Dionisi, Marco;
Vitale, Alessia;
Perioli, Luana;
Dionisi‐Vici, Carlo;
Goffredo, Bianca Maria

Publication type:

Article

Gender-related effects on urine l-cystine metastability.

Published in:

Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9

By:

Masotti, Andrea;
Laurenzi, Chiara;
Boenzi, Sara;
Pastore, Anna;
Taranta, Anna;
Bellomo, Francesco;
Muraca, Maurizio;
Dionisi-Vici, Carlo;
Bertucci, Pierfrancesco;
Strologo, Luca;
Emma, Francesco

Publication type:

Article

Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation.

Published in:

Molecular Genetics & Genomic Medicine, 2019, v. 7, n. 5, p. N.PAG, doi. 10.1002/mgg3.634

By:

Ponzi, Emanuela;
Alesi, Viola;
Lepri, Francesca R.;
Genovese, Silvia;
Loddo, Sara;
Mucciolo, Mafalda;
Novelli, Antonio;
Dionisi‐Vici, Carlo;
Maiorana, Arianna

Publication type:

Article

Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation.

Published in:

European Journal of Pediatrics, 2014, v. 173, n. 10, p. 1391, doi. 10.1007/s00431-014-2338-y

By:

Taurisano, Roberta;
Maiorana, Arianna;
Benedetti, Fabrizio;
Dionisi-Vici, Carlo;
Boldrini, Renata;
Deodato, Federica

Publication type:

Article

Cobalamin C defect presenting as severe neonatal hyperammonemia.

Published in:

2011

By:

Martinelli, Diego;
Dotta, Andrea;
Massella, Laura;
Picca, Stefano;
Di Pede, Alessandra;
Boenzi, Sara;
Aiello, Chiara;
Dionisi-Vici, Carlo

Publication type:

journal article

Hereditary Spastic Paraplegia Is a Common Phenotypic Finding in ARG1 Deficiency, P5CS Deficiency and HHH Syndrome: Three Inborn Errors of Metabolism Caused by Alteration of an Interconnected Pathway of Glutamate and Urea Cycle Metabolism.

Published in:

Frontiers in Neurology, 2019, p. 1, doi. 10.3389/fneur.2019.00131

By:

Panza, Emanuele;
Martinelli, Diego;
Magini, Pamela;
Dionisi Vici, Carlo;
Seri, Marco

Publication type:

Article

Immune Tolerance Induced Using Plasma Exchange and Rituximab in an Infantile Pompe Disease Patient.

Published in:

Journal of Child Neurology, 2014, v. 29, n. 6, p. 850, doi. 10.1177/0883073813485819

By:

Deodato, Federica;
Ginocchio, Virginia Maria;
Onofri, Alfredo;
Grutter, Giorgia;
Germani, Alessandro;
Dionisi-Vici, Carlo

Publication type:

Article

Vici syndrome: a review.

Published in:

2016

By:

Byrne, Susan;
Dionisi-Vici, Carlo;
Smith, Luke;
Gautel, Mathias;
Jungbluth, Heinz

Publication type:

journal article

Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage.

Published in:

2015

By:

Maiorana, Arianna;
Manganozzi, Lucilla;
Barbetti, Fabrizio;
Bernabei, Silvia;
Gallo, Giorgia;
Cusmai, Raffaella;
Caviglia, Stefania;
Dionisi-Vici, Carlo

Publication type:

journal article

The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9

By:

Martinelli, Diego;
Diodato, Daria;
Ponzi, Emanuela;
Monné, Magnus;
Boenzi, Sara;
Bertini, Enrico;
Fiermonte, Giuseppe;
Dionisi-Vici, Carlo

Publication type:

Article

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

Published in:

Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0240-y

By:

Fecarotta, Simona;
Romano, Alfonso;
Casa, Roberto Della;
Giudice, Ennio Del;
Bruschini, Diana;
Mansi, Giuseppina;
Bembi, Bruno;
Dardis, Andrea;
Fiumara, Agata;
Rocco, Maja Di;
Uziel, Graziella;
Ardissone, Anna;
Roccatello, Dario;
Alpa, Mirella;
Bertini, Enrico;
D'Amico, Adele;
Dionisi-Vici, Carlo;
Deodato, Federica;
Caviglia, Stefania;
Federico, Antonio

Publication type:

Article

Cystathionine β‐Synthase Deficiency in the E‐HOD Registry—Part II: Dietary and Pharmacological Treatment.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12844

By:

Morris, Andrew A. M.;
Sokolová, Jitka;
Pavlíková, Markéta;
Gleich, Florian;
Kölker, Stefan;
Dionisi‐Vici, Carlo;
Baumgartner, Matthias R.;
Hannibal, Luciana;
Blom, Henk J.;
Huemer, Martina;
Kožich, Viktor;
Arantes, Rodrigo R.;
Blanco, Francisco Arrieta;
Baghdasaryan, Anna;
Ballhausen, Diana;
Blasco‐Alonso, Javier;
Brouwers, Martijn;
Bueno, María;
Burgos, Rosa;
Villarroya, Elvira Cañedo

Publication type:

Article

Positive Clinical, Neuropsychological, and Metabolic Impact of Liver Transplantation in Patients With Argininosuccinate Lyase Deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12843

By:

Siri, Barbara;
Greco, Benedetta;
Martinelli, Diego;
Cairoli, Sara;
Guarnera, Alessia;
Longo, Daniela;
Napolitano, Antonio;
Parrillo, Chiara;
Ravà, Lucilla;
Simeoli, Raffaele;
Spagnoletti, Gionata;
Taurisano, Roberta;
Veraldi, Silvio;
Pietrobattista, Andrea;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

An update on autophagy disorders.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12798

By:

Dafsari, Hormos Salimi;
Martinelli, Diego;
Saffari, Afshin;
Ebrahimi‐Fakhari, Darius;
Fanto, Manolis;
Dionisi‐Vici, Carlo;
Jungbluth, Heinz

Publication type:

Article

Improved biochemical and neurodevelopmental profiles with high‐dose hydroxocobalamin therapy in cobalamin C defect.

Published in:

Journal of Inherited Metabolic Disease, 2025, v. 48, n. 1, p. 1, doi. 10.1002/jimd.12787

By:

Olivieri, Giorgia;
Greco, Benedetta;
Cairoli, Sara;
Catesini, Giulio;
Lepri, Francesca Romana;
Orazi, Lorenzo;
Mallardi, Maria;
Martinelli, Diego;
Ricci, Daniela;
Simeoli, Raffaele;
Dionisi‐Vici, Carlo

Publication type:

Article

Quo vadis ureagenesis disorders? A journey from 90 years ago into the future.

Published in:

Journal of Inherited Metabolic Disease, 2024, v. 47, n. 6, p. 1120, doi. 10.1002/jimd.12763

By:

Häberle, Johannes;
Siri, Barbara;
Dionisi‐Vici, Carlo

Publication type:

Article

The impact of liver transplantation on health‐related quality of life in (acute) intoxication‐type inborn errors of metabolism.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 5, p. 906, doi. 10.1002/jimd.12648

By:

Greco, Benedetta;
Caviglia, Stefania;
Martinelli, Diego;
Capitello, Teresa Grimaldi;
Liccardo, Daniela;
De Nictolis, Francesca;
Pietrobattista, Andrea;
Huemer, Martina;
Piga, Simone;
Olivieri, Giorgia;
Spagnoletti, Gionata;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Biomarkers to predict disease progression and therapeutic response in isolated methylmalonic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 4, p. 554, doi. 10.1002/jimd.12636

By:

Manoli, Irini;
Gebremariam, Abigael;
McCoy, Samantha;
Pass, Alexandra R.;
Gagné, Jack;
Hall, Camryn;
Ferry, Susan;
Van Ryzin, Carol;
Sloan, Jennifer L.;
Sacchetti, Elisa;
Catesini, Giulio;
Rizzo, Cristiano;
Martinelli, Diego;
Spada, Marco;
Dionisi‐Vici, Carlo;
Venditti, Charles P.

Publication type:

Article

Safety, efficacy, and timing of transplantation(s) in propionic and methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 466, doi. 10.1002/jimd.12613

By:

Chakrapani, Anupam;
Stojanovic, Jelena;
Vara, Roshni;
De Nictolis, Francesca;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Neurologic outcome following liver transplantation for methylmalonic aciduria.

Published in:

Journal of Inherited Metabolic Disease, 2023, v. 46, n. 3, p. 450, doi. 10.1002/jimd.12599

By:

Martinelli, Diego;
Catesini, Giulio;
Greco, Benedetta;
Guarnera, Alessia;
Parrillo, Chiara;
Maines, Evelina;
Longo, Daniela;
Napolitano, Antonio;
De Nictolis, Francesca;
Cairoli, Sara;
Liccardo, Daniela;
Caviglia, Stefania;
Sidorina, Anna;
Olivieri, Giorgia;
Siri, Barbara;
Bianchi, Roberto;
Spagnoletti, Gionata;
Dello Strologo, Luca;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Postauthorization safety study of betaine anhydrous.

Published in:

Journal of Inherited Metabolic Disease, 2022, v. 45, n. 4, p. 719, doi. 10.1002/jimd.12499

By:

Mütze, Ulrike;
Gleich, Florian;
Garbade, Sven F.;
Plisson, Céline;
Aldámiz‐Echevarría, Luis;
Arrieta, Francisco;
Ballhausen, Diana;
Zielonka, Matthias;
Petković Ramadža, Danijela;
Baumgartner, Matthias R.;
Cano, Aline;
García Jiménez, María Concepción;
Dionisi‐Vici, Carlo;
Ješina, Pavel;
Blom, Henk J.;
Couce, Maria Luz;
Meavilla Olivas, Silvia;
Mention, Karine;
Mochel, Fanny;
Morris, Andrew A. M.

Publication type:

Article

Obituary for Claude Bachmann, MD (1941–2022).

Published in:

2022

By:

Batshaw, Mark L.;
Braissant, Olivier;
Dionisi‐Vici, Carlo;
Steinmann, Beat;
Superti‐Furga, Andrea

Publication type:

Obituary

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 566, doi. 10.1002/jimd.12370

By:

Forny, Patrick;
Hörster, Friederike;
Ballhausen, Diana;
Chakrapani, Anupam;
Chapman, Kimberly A.;
Dionisi‐Vici, Carlo;
Dixon, Marjorie;
Grünert, Sarah C.;
Grunewald, Stephanie;
Haliloglu, Goknur;
Hochuli, Michel;
Honzik, Tomas;
Karall, Daniela;
Martinelli, Diego;
Molema, Femke;
Sass, Jörn Oliver;
Scholl‐Bürgi, Sabine;
Tal, Galit;
Williams, Monique;
Huemer, Martina

Publication type:

Article

Combined proteomic and lipidomic studies in Pompe disease allow a better disease mechanism understanding.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 705, doi. 10.1002/jimd.12344

By:

Sidorina, Anna;
Catesini, Giulio;
Levi Mortera, Stefano;
Marzano, Valeria;
Putignani, Lorenza;
Boenzi, Sara;
Taurisano, Roberta;
Garibaldi, Matteo;
Deodato, Federica;
Dionisi‐Vici, Carlo

Publication type:

Article

Cystathionine β‐synthase deficiency in the E‐HOD registry‐part I: pyridoxine responsiveness as a determinant of biochemical and clinical phenotype at diagnosis.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 677, doi. 10.1002/jimd.12338

By:

Kožich, Viktor;
Sokolová, Jitka;
Morris, Andrew A. M.;
Pavlíková, Markéta;
Gleich, Florian;
Kölker, Stefan;
Krijt, Jakub;
Dionisi‐Vici, Carlo;
Baumgartner, Matthias R.;
Blom, Henk J.;
Huemer, Martina;
Aldámiz‐Echevarría, Luis;
Arantes, Rodrigo Rezende;
Arrieta, Francisco;
Blasco‐Alonso, Javier;
Brouwers, Martijn;
Brunner‐Krainz, Michaela;
Bueno, María;
Peláez, Rosa Burgos;
Cano, Aline

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 3, p. 593, doi. 10.1002/jimd.12318

By:

Molema, Femke;
Martinelli, Diego;
Hörster, Friederike;
Kölker, Stefan;
Tangeraas, Trine;
Koning, Barbara;
Dionisi‐Vici, Carlo;
Williams, Monique

Publication type:

Article

Delineating the neurological phenotype in children with defects in the ECHS1 or HIBCH gene.

Published in:

Journal of Inherited Metabolic Disease, 2021, v. 44, n. 2, p. 401, doi. 10.1002/jimd.12288

By:

Marti‐Sanchez, Laura;
Baide‐Mairena, Heidy;
Marcé‐Grau, Anna;
Pons, Roser;
Skouma, Anastasia;
López‐Laso, Eduardo;
Sigatullina, Maria;
Rizzo, Cristiano;
Semeraro, Michela;
Martinelli, Diego;
Carrozzo, Rosalba;
Dionisi‐Vici, Carlo;
González‐Gutiérrez‐Solana, Luis;
Correa‐Vela, Marta;
Ortigoza‐Escobar, Juan Dario;
Sánchez‐Montañez, Ángel;
Vazquez, Élida;
Delgado, Ignacio;
Aguilera‐Albesa, Sergio;
Yoldi, María Eugenia

Publication type:

Article

Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287

By:

Maines, Evelina;
Catesini, Giulio;
Boenzi, Sara;
Mosca, Antonella;
Candusso, Manila;
Dello Strologo, Luca;
Martinelli, Diego;
Maiorana, Arianna;
Liguori, Alessandra;
Olivieri, Giorgia;
Taurisano, Roberta;
Piemonte, Fiorella;
Rizzo, Cristiano;
Spada, Marco;
Dionisi‐Vici, Carlo

Publication type:

Article

Nocturnal enteral nutrition is therapeutic for growth failure in Fanconi‐Bickel syndrome.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 3, p. 540, doi. 10.1002/jimd.12203

By:

Pennisi, Alessandra;
Maranda, Bruno;
Benoist, Jean‐François;
Baudouin, Véronique;
Rigal, Odile;
Pichard, Samia;
Santer, René;
Romana Lepri, Francesca;
Novelli, Antonio;
Ogier de Baulny, Hélène;
Dionisi‐Vici, Carlo;
Schiff, Manuel

Publication type:

Article

Early neurodevelopmental characterization in children with cobalamin C/defect.

Published in:

Journal of Inherited Metabolic Disease, 2020, v. 43, n. 2, p. 367, doi. 10.1002/jimd.12171

By:

Ricci, Daniela;
Martinelli, Diego;
Ferrantini, Gloria;
Lucibello, Simona;
Gambardella, MLuigia;
Olivieri, Giorgia;
Chieffo, Daniela;
Battaglia, Domenica;
Diodato, Daria;
Iarossi, Giancarlo;
Donati, Alice M.;
Dionisi‐Vici, Carlo;
Battini, Roberta;
Mercuri, Eugenio M.

Publication type:

Article

Chronic liver involvement in urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1118, doi. 10.1002/jimd.12144

By:

Ranucci, Giusy;
Rigoldi, Miriam;
Cotugno, Giovanna;
Bernabei, Silvia Maria;
Liguori, Alessandra;
Gasperini, Serena;
Goffredo, Bianca Maria;
Martinelli, Diego;
Monti, Lidia;
Francalanci, Paola;
Candusso, Manila;
Parini, Rossella;
Dionisi‐Vici, Carlo

Publication type:

Article

Suggested guidelines for the diagnosis and management of urea cycle disorders: First revision.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1192, doi. 10.1002/jimd.12100

By:

Häberle, Johannes;
Burlina, Alberto;
Chakrapani, Anupam;
Dixon, Marjorie;
Karall, Daniela;
Lindner, Martin;
Mandel, Hanna;
Martinelli, Diego;
Pintos‐Morell, Guillem;
Santer, René;
Skouma, Anastasia;
Servais, Aude;
Tal, Galit;
Rubio, Vicente;
Huemer, Martina;
Dionisi‐Vici, Carlo

Publication type:

Article

Argininosuccinic aciduria: Recent pathophysiological insights and therapeutic prospects.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 6, p. 1147, doi. 10.1002/jimd.12047

By:

Baruteau, Julien;
Diez‐Fernandez, Carmen;
Lerner, Shaul;
Ranucci, Giusy;
Gissen, Paul;
Dionisi‐Vici, Carlo;
Nagamani, Sandesh;
Erez, Ayelet;
Häberle, Johannes

Publication type:

Article

Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: Data from the E‐HOD registry.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 2, p. 333, doi. 10.1002/jimd.12041

By:

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;
Martin, Carlos Alcalde;
Baethmann, Martina;
Ballhausen, Diana;
Blasco‐Alonso, Javier;
Boy, Nikolas;
Bueno, Maria;
Burgos Peláez, Rosa

Publication type:

Article

Newborn screening for homocystinurias: Recent recommendations versus current practice.

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 128, doi. 10.1002/jimd.12034

By:

Keller, Rebecca;
Chrastina, Petr;
Pavlíková, Markéta;
Gouveia, Sofía;
Ribes, Antonia;
Kölker, Stefan;
Blom, Henk J.;
Baumgartner, Matthias R.;
Bártl, Josef;
Dionisi‐Vici, Carlo;
Gleich, Florian;
Morris, Andrew A.;
Kožich, Viktor;
Huemer, Martina;
Barić, Ivo;
Ben‐Omran, Tawfeq;
Blasco‐Alonso, Javier;
Bueno Delgado, Maria A.;
Carducci, Claudia;
Cassanello, Michela

Publication type:

Article

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

Published in:

Journal of Inherited Metabolic Disease, 2019, v. 42, n. 1, p. 93, doi. 10.1002/jimd.12031

By:

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;
Mew, Nicholas Ah.;
Batshaw, Mark L.;
Baumgartner, Matthias R.;
McCandless, Shawn;
Seminara, Jennifer;
Summar, Marshall;
Hoffmann, Georg F.;
Kölker, Stefan;
Burgard, Peter;
Bloxam, Sondra

Publication type:

Article

Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4

By:

Posset, Roland;
Garcia-Cazorla, Angeles;
Valayannopoulos, Vassili;
Leão Teles, Elisa;
Dionisi-Vici, Carlo;
Brassier, Anaïs;
Burlina, Alberto B.;
Burgard, Peter;
Cortès-Saladelafont, Elisenda;
Dobbelaere, Dries;
Couce, Maria L.;
Sykut-Cegielska, Jolanta;
Häberle, Johannes;
Lund, Allan M.;
Chakrapani, Anupam;
Schiff, Manuel;
Walter, John H.;
Zeman, Jiri;
Vara, Roshni;
Kölker, Stefan

Publication type:

Article

Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 4, p. 531, doi. 10.1007/s10545-017-0059-x

By:

Maiorana, Arianna;
Dionisi-Vici, Carlo

Publication type:

Article

Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2017, v. 40, n. 1, p. 21, doi. 10.1007/s10545-016-9991-4

By:

Huemer, Martina;
Diodato, Daria;
Schwahn, Bernd;
Schiff, Manuel;
Bandeira, Anabela;
Benoist, Jean-Francois;
Burlina, Alberto;
Cerone, Roberto;
Couce, Maria;
Garcia-Cazorla, Angeles;
Marca, Giancarlo;
Pasquini, Elisabetta;
Vilarinho, Laura;
Weisfeld-Adams, James;
Kožich, Viktor;
Blom, Henk;
Baumgartner, Matthias;
Dionisi-Vici, Carlo

Publication type:

Article

Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9

By:

Posset, Roland;
Garcia-Cazorla, Angeles;
Valayannopoulos, Vassili;
Teles, Elisa;
Dionisi-Vici, Carlo;
Brassier, Anaïs;
Burlina, Alberto;
Burgard, Peter;
Cortès-Saladelafont, Elisenda;
Dobbelaere, Dries;
Couce, Maria;
Sykut-Cegielska, Jolanta;
Häberle, Johannes;
Lund, Allan;
Chakrapani, Anupam;
Schiff, Manuel;
Walter, John;
Zeman, Jiri;
Vara, Roshni;
Kölker, Stefan

Publication type:

Article

Expanding the molecular diversity and phenotypic spectrum of glycerol 3-phosphate dehydrogenase 1 deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 689, doi. 10.1007/s10545-016-9956-7

By:

Dionisi-Vici, Carlo;
Shteyer, Eyal;
Niceta, Marcello;
Rizzo, Cristiano;
Pode-Shakked, Ben;
Chillemi, Giovanni;
Bruselles, Alessandro;
Semeraro, Michela;
Barel, Ortal;
Eyal, Eran;
Kol, Nitzan;
Haberman, Yael;
Lahad, Avishai;
Diomedi-Camassei, Francesca;
Marek-Yagel, Dina;
Rechavi, Gideon;
Tartaglia, Marco;
Anikster, Yair

Publication type:

Article

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 2, p. 273, doi. 10.1007/s10545-015-9904-y

By:

Staufner, Christian;
Lindner, Martin;
Dionisi-Vici, Carlo;
Freisinger, Peter;
Dobbelaere, Dries;
Douillard, Claire;
Makhseed, Nawal;
Straub, Beate;
Kahrizi, Kimia;
Ballhausen, Diana;
Marca, Giancarlo;
Kölker, Stefan;
Haas, Dorothea;
Hoffmann, Georg;
Grünert, Sarah;
Blom, Henk

Publication type:

Article

Clinical pattern, mutations and in vitro residual activity in 33 patients with severe 5, 10 methylenetetrahydrofolate reductase (MTHFR) deficiency.

Published in:

Journal of Inherited Metabolic Disease, 2016, v. 39, n. 1, p. 115, doi. 10.1007/s10545-015-9860-6

By:

Huemer, Martina;
Mulder-Bleile, Regina;
Burda, Patricie;
Froese, D.;
Suormala, Terttu;
Zeev, Bruria;
Chinnery, Patrick;
Dionisi-Vici, Carlo;
Dobbelaere, Dries;
Gökcay, Gülden;
Demirkol, Mübeccel;
Häberle, Johannes;
Lossos, Alexander;
Mengel, Eugen;
Morris, Andrew;
Niezen-Koning, Klary;
Plecko, Barbara;
Parini, Rossella;
Rokicki, Dariusz;
Schiff, Manuel

Publication type:

Article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1059, doi. 10.1007/s10545-015-9840-x

By:

Kölker, Stefan;
Valayannopoulos, Vassili;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Boy, S.;
Rasmussen, Marlene;
Burgard, Peter;
Chabrol, Brigitte;
Chakrapani, Anupam;
Chapman, Kimberly

Publication type:

Article

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 6, p. 1041, doi. 10.1007/s10545-015-9839-3

By:

Kölker, Stefan;
Cazorla, Angeles;
Valayannopoulos, Vassili;
Lund, Allan;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Augoustides-Savvopoulou, Persephone;
Aksglaede, Lise;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Chabrol, Brigitte;
Chakrapani, Anupam

Publication type:

Article

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation.

Published in:

2015

By:

Kölker, Stefan;
Cazorla, Angeles;
Valayannopoulos, Vassili;
Lund, Allan;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Augoustides-Savvopoulou, Persephone;
Aksglaede, Lise;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Chabrol, Brigitte;
Chakrapani, Anupam

Publication type:

Erratum

Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype.

Published in:

2015

By:

Kölker, Stefan;
Valayannopoulos, Vassili;
Burlina, Alberto;
Sykut-Cegielska, Jolanta;
Wijburg, Frits;
Teles, Elisa;
Zeman, Jiri;
Dionisi-Vici, Carlo;
Barić, Ivo;
Karall, Daniela;
Arnoux, Jean-Baptiste;
Avram, Paula;
Baumgartner, Matthias;
Blasco-Alonso, Javier;
Boy, S.;
Rasmussen, Marlene;
Burgard, Peter;
Chabrol, Brigitte;
Chakrapani, Anupam;
Chapman, Kimberly

Publication type:

Erratum

The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

Published in:

Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 969, doi. 10.1007/s10545-014-9806-4

By:

Caterino, Marianna;
Pastore, Anna;
Strozziero, Maria;
Giovamberardino, Gianna;
Imperlini, Esther;
Scolamiero, Emanuela;
Ingenito, Laura;
Boenzi, Sara;
Ceravolo, Ferdinando;
Martinelli, Diego;
Dionisi-Vici, Carlo;
Ruoppolo, Margherita

Publication type:

Article

Glutathione metabolism in cobalamin deficiency type C (cblC).

Published in:

Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 125, doi. 10.1007/s10545-013-9605-3

By:

Pastore, Anna;
Martinelli, Diego;
Piemonte, Fiorella;
Tozzi, Giulia;
Boenzi, Sara;
Giovamberardino, Gianna;
Petrillo, Sara;
Bertini, Enrico;
Dionisi-Vici, Carlo

Publication type:

Article