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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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Safety of vaccines administration in hereditary fructose intolerance
Author / Creator:Maiorana, Arianna ; Sabia, Antonella ; Corsetti, Tiziana ; Dionisi-Vici, Carlo
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2020-10, Vol.15 (1), p.1-7, Article 274
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Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort
Author / Creator:Tagliaferri, Francesco ; Massese, Miriam ; Russo, Luisa ; Commone, Anna ; Gasperini, Serena ; Pretese, Roberta ; Dionisi-Vici, Carlo ; Maiorana, Arianna
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-9, Article 285
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Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy
Author / Creator:Porta, Francesco ; Maiorana, Arianna ; Gragnaniello, Vincenza ; Procopio, Elena ; Gasperini, Serena ; Taurisano, Roberta ; Spada, Marco ; Dionisi-Vici, Carlo ; Burlina, Alberto
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2024-10, Vol.50 (1), p.204-9, Article 204
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The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review
Author / Creator:Maines, Evelina ; Gugelmo, Giorgia ; Maiorana, Arianna ; Martinelli, Diego ; Vitturi, Nicola ; Lenzini, Livia ; Piccoli, Giovanni ; Soffiati, Massimo ; Franceschi, Roberto
Publisher:Cham: Springer International Publishing
Journal title:Journal of diabetes and metabolic disorders, 2025-06, Vol.24 (1), p.27, Article 27
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A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome
Author / Creator:Maines, Evelina ; Maiorana, Arianna ; Leonardi, Letizia ; Piccoli, Giovanni ; Soffiati, Massimo ; Franceschi, Roberto
Publisher:Germany: Sciendo
Journal title:Endocrine regulations (Bratislava), 2023-01, Vol.57 (1), p.128-137
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Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations
Author / Creator:Maiorana, Arianna ; Caviglia, Stefania ; Greco, Benedetta ; Alfieri, Paolo ; Cumbo, Francesca ; Campana, Carmen ; Bernabei, Silvia Maria ; Cusmai, Raffaella ; Mosca, Antonella ; Dionisi-Vici, Carlo
Publisher:London: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2021-10, Vol.16 (1), p.1-10, Article 424
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A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report
Author / Creator:Santoro, Lucia ; Pjetraj, Dorina ; Velmishi, Virtut ; Campana, Carmen ; Catassi, Carlo ; Dionisi-Vici, Carlo ; Maiorana, Arianna
Publisher:England: BioMed Central
Journal title:Italian journal of pediatrics, 2022-03, Vol.48 (1), p.39-5, Article 39
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Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis
Author / Creator:Maiorana, Arianna, M.D., Ph.D ; Vergine, Gianluca, M.D ; Coletti, Valentina, M.D ; Luciani, Matteo, M.D ; Rizzo, Cristiano, M.D ; Emma, Francesco, M.D ; Dionisi-Vici, Carlo, M.D
Publisher:New York, NY: Elsevier Inc
Journal title:Nutrition (Burbank, Los Angeles County, Calif.), 2014-07, Vol.30 (7), p.948-952
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The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy
Author / Creator:Napolitano, Antonio ; Longo, Daniela ; Lucignani, Martina ; Pasquini, Luca ; Rossi-Espagnet, Maria Camilla ; Lucignani, Giulia ; Maiorana, Arianna ; Elia, Domenica ; De Liso, Paola ; Dionisi-Vici, Carlo ; Cusmai, Raffaella
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2020-12, Vol.10 (12), p.504
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Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantati...
Author / Creator:Maines, Evelina ; Moretti, Michele ; Vitturi, Nicola ; Gugelmo, Giorgia ; Fasan, Ilaria ; Lenzini, Livia ; Piccoli, Giovanni ; Gragnaniello, Vincenza ; Maiorana, Arianna ; Soffiati, Massimo ; Burlina, Alberto ; Franceschi, Roberto
Publisher:Switzerland: MDPI AG
Journal title:Metabolites, 2023-04, Vol.13 (4), p.563
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Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 ( KCNJ11 ) Mutation V290M Mutation
Author / Creator:Loechner, Karen J. ; Akrouh, Alejandro ; Kurata, Harley T. ; Dionisi-Vici, Carlo ; Maiorana, Arianna ; Pizzoferro, Milena ; Rufini, Vittoria ; de Ville de Goyet, Jean ; Colombo, Carlo ; Barbetti, Fabrizio ; Koster, Joseph C. ; Nichols, Colin G.
Publisher:American Diabetes Association
Journal title:Diabetes (New York, N.Y.), 2010-10, Vol.60 (1), p.209-217
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Role of pescadillo in the transformation and immortalization of mammalian cells
Author / Creator:Maiorana, Arianna ; Tu, Xiao ; Cheng, Guanjun ; Baserga, Renato
Publisher:London: Nature Publishing Group UK
Journal title:Oncogene, 2004-09, Vol.23 (42), p.7116-7124
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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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Drug-induced hyperinsulinemic hypoglycemia: An update on pathophysiology and treatment
Author / Creator:Maines, Evelina ; Urru, Silvana Anna Maria ; Leonardi, Letizia ; Fancellu, Elisabetta ; Campomori, Annalisa ; Piccoli, Giovanni ; Maiorana, Arianna ; Soffiati, Massimo ; Franceschi, Roberto
Publisher:New York: Springer US
Journal title:Reviews in endocrine & metabolic disorders, 2023-12, Vol.24 (6), p.1031-1044
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Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation
Author / Creator:Taurisano, Roberta ; Maiorana, Arianna ; De Benedetti, Fabrizio ; Dionisi-Vici, Carlo ; Boldrini, Renata ; Deodato, Federica
Publisher:Berlin/Heidelberg: Springer Berlin Heidelberg
Journal title:European journal of pediatrics, 2014-10, Vol.173 (10), p.1391-1394
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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice
Author / Creator:Mayorandan, Sebene ; Meyer, Uta ; Gokcay, Gülden ; Segarra, Nuria Garcia ; de Baulny, Hélène Ogier ; van Spronsen, Francjan ; Zeman, Jiri ; de Laet, Corinne ; Spiekerkoetter, Ute ; Thimm, Eva ; Maiorana, Arianna ; Dionisi-Vici, Carlo ; Moeslinger, Dorothea ; Brunner-Krainz, Michaela ; Lotz-Havla, Amelie Sophia ; Cocho de Juan, José Angel ; Couce Pico, Maria Luz ; Santer, René ; Scholl-Bürgi, Sabine ; Mandel, Hanna ; Bliksrud, Yngve Thomas ; Freisinger, Peter ; Aldamiz-Echevarria, Luis Jose ; Hochuli, Michel ; Gautschi, Matthias ; Endig, Jessica ; Jordan, Jens ; McKiernan, Patrick ; Ernst, Stefanie ; Morlot, Susanne ; Vogel, Arndt ; Sander, Johannes ; Das, Anibh Martin
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2014-08, Vol.9 (1), p.107-107, Article 107
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Ketogenic diet in a patient with congenital hyperinsulinism: a novel approach to prevent brain damage
Author / Creator:Maiorana, Arianna ; Manganozzi, Lucilla ; Barbetti, Fabrizio ; Bernabei, Silvia ; Gallo, Giorgia ; Cusmai, Raffaella ; Caviglia, Stefania ; Dionisi-Vici, Carlo
Publisher:England: BioMed Central Ltd
Journal title:Orphanet journal of rare diseases, 2015-09, Vol.10 (1), p.120-120, Article 120
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Isolation and Characterization of Omental Adipose Progenitor Cells in Children: A Potential Tool to Unravel the Pathogenesis of Metabolic Syndrome
Author / Creator:Maiorana, Arianna ; Fierabracci, Alessandra ; Cianfarani, Stefano
Publisher:Basel, Switzerland: S. Karger AG
Journal title:Hormone research in paediatrics, 2009-01, Vol.72 (6), p.348-358
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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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Showing 1 to 20 of 26 results

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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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Safety of vaccines administration in hereditary fructose intolerance

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Hepatic glycogen storage diseases type 0, VI and IX: description of an italian cohort

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Triheptanoin in patients with long-chain fatty acid oxidation disorders: clinical experience in Italy

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The role of the analysis of sialotransferrin isoforms in the management of hereditary fructose intolerance: a systematic review

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A narrative review on pathogenetic mechanisms of hyperinsulinemic hypoglycemia in Kabuki syndrome

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Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations

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A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis – case report

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Acute thiamine deficiency and refeeding syndrome: Similar findings but different pathogenesis

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The Ketogenic Diet Increases In Vivo Glutathione Levels in Patients with Epilepsy

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Understanding the Pathogenesis of Cardiac Complications in Patients with Propionic Acidemia and Exploring Therapeutic Alternatives for Those Who Are Not Eligible or Are Waiting for Liver Transplantati...

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Congenital Hyperinsulinism and Glucose Hypersensitivity in Homozygous and Heterozygous Carriers of Kir6.2 ( KCNJ11 ) Mutation V290M Mutation

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Role of pescadillo in the transformation and immortalization of mammalian cells

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Hyperinsulinemic hypoglycemia: clinical, molecular and therapeutical novelties

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Drug-induced hyperinsulinemic hypoglycemia: An update on pathophysiology and treatment

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Wolman disease associated with hemophagocytic lymphohistiocytosis: attempts for an explanation

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Cross-sectional study of 168 patients with hepatorenal tyrosinaemia and implications for clinical practice

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

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Isolation and Characterization of Omental Adipose Progenitor Cells in Children: A Potential Tool to Unravel the Pathogenesis of Metabolic Syndrome

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

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