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ArticlesPeer ReviewedFull Text
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Author / Creator:Huemer, Martina ; Diodato, Daria ; Schwahn, Bernd ; Schiff, Manuel ; Bandeira, Anabela ; Benoist, Jean-Francois ; Burlina, Alberto ; Cerone, Roberto ; Couce, Maria L. ; Garcia-Cazorla, Angeles ; la Marca, Giancarlo ; Pasquini, Elisabetta ; Vilarinho, Laura ; Weisfeld-Adams, James D. ; Kožich, Viktor ; Blom, Henk ; Baumgartner, Matthias R. ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-01, Vol.40 (1), p.21-48
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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
Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions
Author / Creator:Verduci, Elvira ; Tosi, Martina ; Dionisi Vici, Carlo ; Spada, Marco
Publisher:Switzerland: MDPI AG
Journal title:Genes, 2025-04, Vol.16 (5), p.502
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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
Recommendations for the management of tyrosinaemia type 1
Author / Creator:de Laet, Corinne ; Dionisi-Vici, Carlo ; Leonard, James V ; McKiernan, Patrick ; Mitchell, Grant ; Monti, Lidia ; de Baulny, Hélène Ogier ; Pintos-Morell, Guillem ; Spiekerkötter, Ute
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2013-01, Vol.8 (1), p.8-8, Article 8
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ArticlesPeer ReviewedFull Text
A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients
Author / Creator:Simeoli, Raffaele ; Cairoli, Sara ; Greco, Marcella ; Bellomo, Francesco ; Mancini, Alessandro ; Rossi, Chiara ; Dionisi Vici, Carlo ; Emma, Francesco ; Goffredo, Bianca Maria
Publisher:Switzerland: MDPI AG
Journal title:Pharmaceuticals (Basel, Switzerland), 2024-05, Vol.17 (5), p.649
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ArticlesPeer ReviewedFull Text
Spinal cord involvement in Kearns-Sayre syndrome: a neuroimaging study
Author / Creator:Pasquini, Luca ; Guarnera, Alessia ; Camilla Rossi-Espagnet Maria ; Napolitano, Antonio ; Martinelli, Diego ; Deodato, Federica ; Diodato, Daria ; Carrozzo, Rosalba ; Dionisi-Vici, Carlo ; Longo, Daniela
Publisher:Heidelberg: Springer Nature B.V
Journal title:Neuroradiology, 2020-10, Vol.62 (10), p.1315-1321
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ArticlesPeer ReviewedFull Text
Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants
Author / Creator:Ferretti, Alessandro ; Simeoli, Raffaele ; Cairoli, Sara ; Pietrafusa, Nicola ; Trivisano, Marina ; Dionisi Vici, Carlo ; Specchio, Nicola ; Goffredo, Bianca Maria
Publisher:Basel: MDPI AG
Journal title:Pharmaceutics, 2022-10, Vol.14 (10), p.2230
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ArticlesPeer ReviewedFull Text
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
Author / Creator:Staufner, Christian ; Lindner, Martin ; Dionisi-Vici, Carlo ; Freisinger, Peter ; Dobbelaere, Dries ; Douillard, Claire ; Makhseed, Nawal ; Straub, Beate K. ; Kahrizi, Kimia ; Ballhausen, Diana ; la Marca, Giancarlo ; Kölker, Stefan ; Haas, Dorothea ; Hoffmann, Georg F. ; Grünert, Sarah C. ; Blom, Henk J.
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2016-03, Vol.39 (2), p.273-283
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ArticlesPeer ReviewedFull Text
‘Classical’ organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: Long‐term outcome and effects of expanded newborn screening using tandem mass spectrometry
Author / Creator:Dionisi‐Vici, Carlo ; Deodato, Federica ; Röschinger, Wulf ; Rhead, William ; Wilcken, Bridget
Publisher:Dordrecht: Kluwer Academic Publishers
Journal title:Journal of inherited metabolic disease, 2006-04, Vol.29 (2-3), p.383-389
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ArticlesPeer ReviewedFull Text
Measurement of Anti-TNF Biologics in Serum Samples of Pediatric Patients: Comparison of Enzyme-Linked Immunosorbent Assay (ELISA) with a Rapid and Automated Fluorescence-Based Lateral Flow Immunoassay
Author / Creator:Rossi, Chiara ; Simeoli, Raffaele ; Angelino, Giulia ; Cairoli, Sara ; Bracci, Fiammetta ; Knafelz, Daniela ; Romeo, Erminia Francesca ; Faraci, Simona ; Tarantino, Giusyda ; Mancini, Alessandro ; Vitale, Alessia ; Vici, Carlo Dionisi ; Manzoni, Silvia Magni ; De Angelis, Paola ; Goffredo, Bianca Maria
Publisher:Switzerland: MDPI AG
Journal title:Pharmaceutics, 2025-03, Vol.17 (4), p.421
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ArticlesPeer ReviewedFull Text
Use of Antibiotics in Preterm Newborns
Author / Creator:Simeoli, Raffaele ; Cairoli, Sara ; Decembrino, Nunzia ; Campi, Francesca ; Dionisi Vici, Carlo ; Corona, Alberto ; Goffredo, Bianca Maria
Publisher:Basel: MDPI AG
Journal title:Antibiotics (Basel), 2022-08, Vol.11 (9), p.1142
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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
A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition
Author / Creator:Pieragostino, Damiana ; Cicalini, Ilaria ; Di Michele, Silvia ; Fusilli, Paola ; Cotugno, Giovanna ; Ferrante, Rossella ; Bucci, Ines ; Dionisi-Vici, Carlo ; Stuppia, Liborio ; De Laurenzi, Vincenzo ; Rossi, Claudia
Publisher:Switzerland: MDPI
Journal title:Metabolites, 2020-01, Vol.10 (2), p.44
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ArticlesPeer ReviewedFull Text
Uniparental isodisomy of chromosome 1 results in glycogen storage disease type III with profound growth retardation
Author / Creator:Ponzi, Emanuela ; Alesi, Viola ; Lepri, Francesca R. ; Genovese, Silvia ; Loddo, Sara ; Mucciolo, Mafalda ; Novelli, Antonio ; Dionisi‐Vici, Carlo ; Maiorana, Arianna
Publisher:United States: John Wiley & Sons, Inc
Journal title:Molecular genetics & genomic medicine, 2019-05, Vol.7 (5), p.e634-n/a
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ArticlesPeer ReviewedFull Text
Creatine metabolism in urea cycle defects
Author / Creator:Boenzi, Sara ; Pastore, Anna ; Martinelli, Diego ; Goffredo, Bianca Maria ; Boiani, Arianna ; Rizzo, Cristiano ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2012-07, Vol.35 (4), p.647-653
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ArticlesPeer ReviewedFull Text
Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI
Author / Creator:Massese, Miriam ; Tagliaferri, Francesco ; Dionisi-Vici, Carlo ; Maiorana, Arianna
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-06, Vol.17 (1), p.1-12, Article 241
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ArticlesPeer ReviewedFull Text
Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties
Author / Creator:Maiorana, Arianna ; Dionisi-Vici, Carlo
Publisher:Dordrecht: Springer Netherlands
Journal title:Journal of inherited metabolic disease, 2017-07, Vol.40 (4), p.531-542
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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, 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 ; 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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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency

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Cobalamin C defect: natural history, pathophysiology, and treatment

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Single Amino Acid Supplementation in Inherited Metabolic Disorders: An Evidence-Based Review of Interventions

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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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Recommendations for the management of tyrosinaemia type 1

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A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients

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

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Therapeutic Drug Monitoring of Quinidine in Pediatric Patients with KCNT1 Genetic Variants

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

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

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Measurement of Anti-TNF Biologics in Serum Samples of Pediatric Patients: Comparison of Enzyme-Linked Immunosorbent Assay (ELISA) with a Rapid and Automated Fluorescence-Based Lateral Flow Immunoassay

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Use of Antibiotics in Preterm Newborns

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TMEM70 deficiency: long-term outcome of 48 patients

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A Case of Suspected Hyperphenylalaninemia at Newborn Screening by Tandem Mass Spectrometry during Total Parenteral Nutrition

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

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Creatine metabolism in urea cycle defects

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Glycogen storage diseases with liver involvement: a literature review of GSD type 0, IV, VI, IX and XI

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Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

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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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