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ArticlesPeer ReviewedFull Text
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
Author / Creator:Baumgartner, Matthias R ; Hörster, Friederike ; Dionisi-Vici, Carlo ; Haliloglu, Goknur ; Karall, Daniela ; Chapman, Kimberly A ; Huemer, Martina ; Hochuli, Michel ; Assoun, Murielle ; Ballhausen, Diana ; Burlina, Alberto ; Fowler, Brian ; Grünert, Sarah C ; Grünewald, Stephanie ; Honzik, Tomas ; Merinero, Begoña ; Pérez-Cerdá, Celia ; Scholl-Bürgi, Sabine ; Skovby, Flemming ; Wijburg, Frits ; MacDonald, Anita ; Martinelli, Diego ; Sass, Jörn Oliver ; Valayannopoulos, Vassili ; Chakrapani, Anupam
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-09, Vol.9 (1), p.130-130, Article 130
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ArticlesPeer ReviewedFull Text
Suggested guidelines for the diagnosis and management of urea cycle disorders
Author / Creator:Häberle, Johannes ; Boddaert, Nathalie ; Burlina, Alberto ; Chakrapani, Anupam ; Dixon, Marjorie ; Huemer, Martina ; Karall, Daniela ; Martinelli, Diego ; Crespo, Pablo Sanjurjo ; Santer, René ; Servais, Aude ; Valayannopoulos, Vassili ; Lindner, Martin ; Rubio, Vicente ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2012-05, Vol.7 (1), p.32-32
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ArticlesPeer ReviewedFull Text
Cobalamin C defect: natural history, pathophysiology, and treatment
Author / Creator:Martinelli, Diego ; Deodato, Federica ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Dordrecht : Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2011-02, Vol.34 (1), p.127-135
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ArticlesPeer ReviewedFull Text
U-IMD: the first Unified European registry for inherited metabolic diseases
Author / Creator:Opladen, Thomas ; Gleich, Florian ; Kozich, Viktor ; Scarpa, Maurizio ; Martinelli, Diego ; Schaefer, Franz ; Jeltsch, Kathrin ; Juliá-Palacios, Natalia ; García-Cazorla, Ángels ; Dionisi-Vici, Carlo ; Kölker, Stefan
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-02, Vol.16 (1), p.95-95, Article 95
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Newsletter articlesFull Text
Miller Guy M, Dionisi-Vici Carlo, Bertini Enrico and Martinelli Diego File United States Patent Application for Treatment of Methylmalonic Aciduria, Isovaleric Aciduria and Other Organic Acidurias wit...
Publisher:New Delhi: Pedia Content Solutions Pvt. Ltd
Journal title:Global IP News. Pharmaceutical Patent News, 2015
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ArticlesPeer ReviewedFull Text
Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases
Author / Creator:Ardissone, Anna ; Bruno, Claudio ; Diodato, Daria ; Donati, Alice ; Ghezzi, Daniele ; Lamantea, Eleonora ; Lamperti, Costanza ; Mancuso, Michelangelo ; Martinelli, Diego ; Primiano, Guido ; Procopio, Elena ; Rubegni, Anna ; Santorelli, Filippo ; Schiaffino, Maria Cristina ; Servidei, Serenella ; Tubili, Flavia ; Bertini, Enrico ; Moroni, Isabella
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-413, Article 413
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ArticlesPeer ReviewedFull Text
A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease
Author / Creator:Diodato, Daria ; Tasca, Giorgio ; Verrigni, Daniela ; D'Amico, Adele ; Rizza, Teresa ; Tozzi, Giulia ; Martinelli, Diego ; Verardo, Margherita ; Invernizzi, Federica ; Nasca, Alessia ; Bellacchio, Emanuele ; Ghezzi, Daniele ; Piemonte, Fiorella ; Dionisi-Vici, Carlo ; Carrozzo, Rosalba ; Bertini, Enrico
Publisher:England: Nature Publishing Group
Journal title:European journal of human genetics : EJHG, 2016-03, Vol.24 (3), p.463-466
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ArticlesPeer ReviewedFull Text
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Author / Creator:Martinelli, Diego ; Diodato, Daria ; Ponzi, Emanuela ; Monné, Magnus ; Boenzi, Sara ; Bertini, Enrico ; Fiermonte, Giuseppe ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-03, Vol.10 (1), p.29-29, Article 29
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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.208-208, Article 208
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ArticlesPeer ReviewedFull Text
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
Author / Creator:Luca, Pasquini ; Alessia, Guarnera ; Camilla, Rossi-Espagnet Maria ; Antonio, Napolitano ; Diego, Martinelli ; Federica, Deodato ; Daria, Diodato ; Rosalba, Carrozzo ; Carlo, Dionisi-Vici ; Daniela, Longo
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:Neuroradiology, 2020-10, Vol.62 (10), p.1315-1321
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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
Influence of sport mouthguards on the ecological factors of the children oral cavity
Author / Creator:D'Ercole, Simonetta ; Martinelli, Diego ; Tripodi, Domenico
Publisher:England: BioMed Central Ltd
Journal title:BMC oral health, 2014-08, Vol.14 (1), p.97-97, Article 97
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ArticlesPeer ReviewedFull Text
Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report
Author / Creator:Dellepiane, Francesco ; Moltoni, Giulia ; Ronci, Sara ; Guarnera, Alessia ; Rossi-Espagnet, Maria Camilla ; Digilio, Maria Cristina ; Martinelli, Diego ; Campi, Francesca ; Longo, Daniela
Publisher:Switzerland: MDPI AG
Journal title:Biomedicines, 2024-12, Vol.12 (12), p.2779
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ArticlesPeer ReviewedFull Text
Analysis of LPI-causing mutations on y+LAT1 function and localization
Author / Creator:Rotoli, Bianca Maria ; Barilli, Amelia ; Ingoglia, Filippo ; Visigalli, Rossana ; Bianchi, Massimiliano G ; Ferrari, Francesca ; Martinelli, Diego ; Dionisi-Vici, Carlo ; Dall'Asta, Valeria
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2019-03, Vol.14 (1), p.63-63, Article 63
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ArticlesPeer ReviewedFull Text
TMEM70 deficiency: long-term outcome of 48 patients
Author / Creator:Magner, Martin ; Dvorakova, Veronika ; Tesarova, Marketa ; Mazurova, Stella ; Hansikova, Hana ; Zahorec, Martin ; Brennerova, Katarina ; Bzduch, Vladimir ; Spiegel, Ronen ; Horovitz, Yoseph ; Mandel, Hanna ; Eminoğlu, Fatma Tuba ; Mayr, Johannes Adalbert ; Koch, Johannes ; Martinelli, Diego ; Bertini, Enrico ; Konstantopoulou, Vassiliki ; Smet, Joél ; Rahman, Shamima ; Broomfield, Alexander ; Stojanović, Vesna ; Dionisi-Vici, Carlo ; van Coster, Rudy ; Morava-Kozicz, Eva ; Sperl, Wolfgang ; Zeman, Jiri ; Honzik, Tomas
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2015-05, Vol.38 (3), p.417-426
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ArticlesPeer ReviewedFull Text
Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children
Author / Creator:Baban, Anwar ; Lodato, Valentina ; Parlapiano, Giovanni ; di Mambro, Corrado ; Adorisio, Rachele ; Bertini, Enrico Silvio ; Dionisi-Vici, Carlo ; Drago, Fabrizio ; Martinelli, Diego
Publisher:Switzerland: MDPI AG
Journal title:Biomolecules (Basel, Switzerland), 2021-10, Vol.11 (11), p.1578
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ArticlesPeer ReviewedFull Text
Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine
Author / Creator:Šikić, Katarina ; Peters, Tessa M. A. ; Engelke, Udo ; Petković Ramadža, Danijela ; Žigman, Tamara ; Fumić, Ksenija ; Davidović, Maša ; Huljev Frković, Sanda ; Körmendy, Tibor ; Martinelli, Diego ; Novelli, Antonio ; Lepri, Francesca Romana ; Wevers, Ron A. ; Barić, Ivo
Publisher:Hoboken, USA: John Wiley & Sons, Inc
Journal title:JIMD reports, 2024-11, Vol.65 (6), p.361-370
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ArticlesPeer ReviewedFull Text
A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report
Author / Creator:Lucignani, Giulia ; Vattermoli, Leonardo ; Rossi-Espagnet, Maria Camilla ; Guarnera, Alessia ; Napolitano, Antonio ; Figà-Talamanca, Lorenzo ; Campi, Francesca ; Ronci, Sara ; Dionisi Vici, Carlo ; Martinelli, Diego ; Gandolfo, Carlo ; Longo, Daniela
Publisher:Switzerland: MDPI AG
Journal title:Children (Basel), 2023-06, Vol.10 (6), p.1072
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ArticlesPeer ReviewedFull Text
Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model
Author / Creator:Haddad, Marie Reine ; Choi, Eun-Young ; Zerfas, Patricia M. ; Yi, Ling ; Martinelli, Diego ; Sullivan, Patricia ; Goldstein, David S. ; Centeno, Jose A. ; Brinster, Lauren R. ; Ralle, Martina ; Kaler, Stephen G.
Publisher:United States: Elsevier Inc
Journal title:Molecular therapy. Methods & clinical development, 2018-09, Vol.10 (C), p.165-178
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ArticlesPeer ReviewedFull Text
P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9
Author / Creator:Magini, Pamela ; Marco‐Marin, Clara ; Escamilla‐Honrubia, Juan M. ; Martinelli, Diego ; Dionisi-Vici, Carlo ; Faravelli, Francesca ; Forzano, Francesca ; Seri, Marco ; Rubio, Vicente ; Panza, Emanuele
Publisher:United States: John Wiley & Sons, Inc
Journal title:Annals of clinical and translational neurology, 2019-08, Vol.6 (8), p.1533-1540
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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia

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Suggested guidelines for the diagnosis and management of urea cycle disorders

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Cobalamin C defect: natural history, pathophysiology, and treatment

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U-IMD: the first Unified European registry for inherited metabolic diseases

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Miller Guy M, Dionisi-Vici Carlo, Bertini Enrico and Martinelli Diego File United States Patent Application for Treatment of Methylmalonic Aciduria, Isovaleric Aciduria and Other Organic Acidurias wit...

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Clinical, imaging, biochemical and molecular features in Leigh syndrome: a study from the Italian network of mitochondrial diseases

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A novel AIFM1 mutation expands the phenotype to an infantile motor neuron disease

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The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

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

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Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study

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

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Influence of sport mouthguards on the ecological factors of the children oral cavity

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Two Different Brain Injury Patterns Associated with Compound Heterozygosis of the PIGO Gene in a Term Newborn: A Case Report

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Analysis of LPI-causing mutations on y+LAT1 function and localization

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TMEM70 deficiency: long-term outcome of 48 patients

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Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children

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Huppke–Brendel syndrome: Novel cases and a therapeutic trial with ketogenic diet and N‐acetylcysteine

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A New Pattern of Brain and Cord Gadolinium Enhancement in Molybdenum Cofactor Deficiency: A Case Report

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Cerebrospinal Fluid-Directed rAAV9-rsATP7A Plus Subcutaneous Copper Histidinate Advance Survival and Outcomes in a Menkes Disease Mouse Model

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P5CS expression study in a new family with ALDH18A1‐associated hereditary spastic paraplegia SPG9

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