HHH syndrome (hyperornithinaemia, hyperammonaemia, homocitrullinuria), with fulminant hepatitis‐like presentation von Fecarotta, S., Parenti, G., Vajro, P., Zuppaldi, A., Casa, R. Della, Carbone, M. T., Correra, A., Torre, G., Riva, S., Dionisi‐Vici, C., Santorelli, F. M., Andria, G.

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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of Δ7-sterol reductase in Italy and report of three novel mutations von De Brasi, D, Esposito, T, Rossi, M, Parenti, G, Sperandeo, MP, Zuppaldi, A, Bardaro, T, Ambruzzi, MA, Zelante, L, Ciccodicola, A, Sebastio, G, D'Urso, M, Andria, G

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Smith-Lemli-Opitz syndrome: evidence of T93M as a common mutation of delta7-sterol reductase in Italy and report of three novel mutations von De Brasi, D, Esposito, T, Rossi, M, Parenti, G, Sperandeo, M P, Zuppaldi, A, Bardaro, T, Ambruzzi, M A, Zelante, L, Ciccodicola, A, Sebastio, G, D'Urso, M, Andria, G

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Daily Fructose Traces Intake and Liver Injury in Children with Hereditary Fructose Intolerance von Di Dato, Fabiola, Spadarella, Simona, Puoti, Maria Giovanna, Caprio, Maria Grazia, Pagliardini, Severo, Zuppaldi, Claudia, Vallone, Gianfranco, Fecarotta, Simona, Esposito, Gabriella, Iorio, Raffaele, Parenti, Giancarlo, Spagnuolo, Maria Immacolata

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Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 von Fecarotta, Simona, D’Amico, Alessandra, Di Gennaro, Simona, Alagia, Marianna, Rossi, Alessandro, Zuppaldi, Claudia, Parenti, Giancarlo, Terrone, Gaetano

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P168 Iatrogenic protein malnutrition: acrodermatitis, hypoalbuminemia, pancytopenia in a child with newly diagnosed propionic acidemia von D'Acunzo, I., Di Pinto, R., Zuppaldi, C., Fecarotta, S., Parenti, G., Della Casa, R.

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Impaired Bone Metabolism in Glycogen Storage Disease Type 1 Is Associated with Poor Metabolic Control in Type 1a and with Granulocyte Colony-Stimulating Factor Therapy in Type 1b von Melis, D., Pivonello, R., Cozzolino, M., Della Casa, R., Balivo, F., Del Puente, A., Dionisi-Vici, C., Cotugno, G., Zuppaldi, C., Rigoldi, M., Parini, R., Colao, A., Andria, G., Parenti, G.

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Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry von D'Apolito, Oceania, Garofalo, Daniela, Paglia, Giuseppe, Zuppaldi, Alfredo, Corso, Gaetano

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Liver enzymes in children and adolescents with eating disorders von Idelson, Paola Iaccarino, Bsc, Zuppaldi, Claudia, RD, Mazzarella, Gianfranco, MD, Salerno, Filomena, MD, Franzese, Adriana, MD

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Orotic acid quantification in dried blood spots and biological fluids by hydrophilic interaction liquid chromatography tandem mass spectrometry: HILIC and Mixed Modes von D'APOLITO, Oceania, GAROFALO, Daniela, PAGLIA, Giuseppe, ZUPPALDI, Alfredo, CORSO, Gaetano

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Pharmacological Enhancement of Mutated -Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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Metabolic stroke-like events in a girl with pyruvate dehydrogenase complex deficiency caused by a novel de novo mutation in PDHA1 von Fecarotta, Simona, D'Amico, Alessandra, Di Gennaro, Simona, Alagia, Marianna, Rossi, Alessandro, Zuppaldi, Claudia, Parenti, Giancarlo, Terrone, Gaetano

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Pharmacological Enhancement of Mutated α-Glucosidase Activity in Fibroblasts from Patients with Pompe Disease von Parenti, Giancarlo, Zuppaldi, Alfredo, Gabriela Pittis, M, Rosaria Tuzzi, M, Annunziata, Ida, Meroni, Germana, Porto, Caterina, Donaudy, Francesca, Rossi, Barbara, Rossi, Massimiliano, Filocamo, Mirella, Donati, Alice, Bembi, Bruno, Ballabio, Andrea, Andria, Generoso

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