Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
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
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Published in International journal of neonatal screening (01.03.2018)
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Marini, Monica, Bocciardi, Renata, Gimelli, Stefania, Di Duca, Marco, Divizia, Maria T., Baban, Anwar, Gaspar, Harald, Mammi, Isabella, Garavelli, Livia, Cerone, Roberto, Emma, Francesco, Bedeschi, Maria F., Tenconi, Romano, Sensi, Alberto, Salmaggi, Andrea, Bengala, Mario, Mari, Francesca, Colussi, Gianluca, Szczaluba, Krzysztof, Antonarakis, Stylianos E., Seri, Marco, Lerone, Margherita, Ravazzolo, Roberto
Published in Genetics in medicine (01.07.2010)
Published in Genetics in medicine (01.07.2010)
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Common criteria among States for storage and use of dried blood spot specimens after newborn screening
Petrini, Carlo, Olivieri, Antonella, Corbetta, Carlo, Cerone, Roberto, D'Agnolo, Giuliano, Bompiani, Adriano
Published in Annali dell'Istituto superiore di sanita (01.01.2012)
Published in Annali dell'Istituto superiore di sanita (01.01.2012)
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Storage and use of residual newborn screening dot blood samples in Italy
Petrini, Carlo, Olivieri, Antonella, Corbetta, Carlo, Cerone, Roberto, D'Agnolo, Giuliano, Bompiani, Adriano
Published in Italian journal of pediatrics (21.05.2011)
Published in Italian journal of pediatrics (21.05.2011)
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Early‐onset Cobalamin C/D Deficiency: Epilepsy and Electroencephalographic Features
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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria
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Published in Molecular genetics and metabolism (01.05.2019)
Published in Molecular genetics and metabolism (01.05.2019)
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Clinical presentation and outcome in a series of 88 patients with the cblC defect
Fischer, Sabine, Huemer, Martina, Baumgartner, Matthias, Deodato, Federica, Ballhausen, Diana, Boneh, Avihu, Burlina, Alberto B., Cerone, Roberto, Garcia, Paula, Gökçay, Gülden, Grünewald, Stephanie, Häberle, Johannes, Jaeken, Jaak, Ketteridge, David, Lindner, Martin, Mandel, Hanna, Martinelli, Diego, Martins, Esmeralda G., Schwab, Karl O., Gruenert, Sarah C., Schwahn, Bernd C., Sztriha, László, Tomaske, Maren, Trefz, Friedrich, Vilarinho, Laura, Rosenblatt, David S., Fowler, Brian, Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.09.2014)
Published in Journal of inherited metabolic disease (01.09.2014)
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Phenotype, treatment practice and outcome in the cobalamin‐dependent remethylation disorders and MTHFR deficiency: data from the E‐HOD registry
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, Cerone, Roberto, Chabrol, Brigitte, Chapman, Kimberly A., Couce, Maria Luz, Crushell, Ellen, Dalmau Serra, Jaime, Diogo, Luisa, Ficicioglu, Can, García Jimenez, Maria Concepcion, García Silva, Maria Teresa, Gaspar, Ana, Gautschi, Matthias, González‐Lamuño, Domingo, Gouveia, Sofia, Grünewald, Stephanie, Hendriksz, Chris, Janssen, Mirian C. H., Jesina, Pavel, Koch, Johannes, Konstantopoulou, Vassiliki, Lavigne, Christian, Lund, Allan M., Martins, Esmeralda G., Meavilla Olivas, Silvia, Mention, Karine, Mochel, Fanny, Mundy, Helen, Murphy, Elaine, Paquay, Stephanie, Pedrón‐Giner, Consuelo, Ruiz Gómez, Maria Angeles, Santra, Saikat, Schiff, Manuel, Schwartz, Ida Vanessa, Scholl‐Bürgi, Sabine, Servais, Aude, Skouma, Anastasia, Tran, Christel, Vives Piñera, Inmaculada, Walter, John, Weisfeld‐Adams, James
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Why do premature newborn infants display elevated blood adenosine levels?
Panfoli, Isabella, Cassanello, Michela, Bruschettini, Matteo, Colella, Marina, Cerone, Roberto, Ravera, Silvia, Calzia, Daniela, Candiano, Giovanni, Ramenghi, Luca
Published in Medical hypotheses (01.05.2016)
Published in Medical hypotheses (01.05.2016)
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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study
Keil, Stefanie, Anjema, Karen, van Spronsen, Francjan J, Lambruschini, Nilo, Burlina, Alberto, Bélanger-Quintana, Amaya, Couce, Maria L, Feillet, Francois, Cerone, Roberto, Lotz-Havla, Amelie S, Muntau, Ania C, Bosch, Annet M, Meli, Concetta A P, Billette de Villemeur, Thierry, Kern, Ilse, Riva, Enrica, Giovannini, Marcello, Damaj, Lena, Leuzzi, Vincenzo, Blau, Nenad
Published in Pediatrics (Evanston) (01.06.2013)
Published in Pediatrics (Evanston) (01.06.2013)
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Testing for Tetrahydrobiopterin Responsiveness in Patients with Hyperphenylalaninemia due to Phenylalanine Hydroxylase Deficiency
Cerone, Roberto, Andria, Generoso, Giovannini, Marcello, Leuzzi, Vincenzo, Riva, Enrica, Burlina, Alberto
Published in Advances in therapy (01.03.2013)
Published in Advances in therapy (01.03.2013)
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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type
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Published in Molecular genetics and metabolism (01.04.2008)
Published in Molecular genetics and metabolism (01.04.2008)
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Commentary. Common criteria among States for storage and use of dried blood spot specimens after newborn screening
Petrini, Carlo, Olivieri, Antonella, Corbetta, Carlo, Cerone, Roberto, D’Agnolo, Giuliano, Bompiani, Adriano
Published in Annali dell'Istituto superiore di sanità (01.06.2012)
Published in Annali dell'Istituto superiore di sanità (01.06.2012)
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Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening
Arnold, Georgianne L., Salazar, Denise, Neidich, Julie A., Suwannarat, Pim, Graham, Brett H., Lichter-Konecki, Uta, Bosch, Annet M., Cusmano-Ozog, Kristina, Enns, Greg, Wright, Erica L., Lanpher, Brendan C., Owen, Natalie N., Lipson, Mark H., Cerone, Roberto, Levy, Paul, Wong, Lee-Jun C., Dezsofi, Antal
Published in Molecular genetics and metabolism (01.08.2012)
Published in Molecular genetics and metabolism (01.08.2012)
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The pathobiochemistry of uremia and hyperargininemia further demonstrates a metabolic relationship between urea and guanidinosuccinic acid
Marescau, B, De Deyn, P P, Qureshi, I A, De Broe, M E, Antonozzi, I, Cederbaum, S D, Cerone, R, Chamoles, N, Gatti, R, Kang, S S
Published in Metabolism, clinical and experimental (01.09.1992)
Published in Metabolism, clinical and experimental (01.09.1992)
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Mutations and Phenotypes In Dihydropteridine Reductase Deficiency in Italy
de Sanctis, Luisa, Alliaudi, Carla, Spada, Marco, Cerone, Roberto, Biasucci, Giacomo, Blau, Nenad, Ponzone, Alberto, Dianzani, Irma
Published in Pteridines (01.08.1996)
Published in Pteridines (01.08.1996)
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Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis
Verrina, Enrico, Caruso, Ubaldo, Calevo, Maria Grazia, Emma, Francesco, Sorino, Palma, De Palo, Tommaso, Lavoratti, Giancarlo, Turrini Dertenois, Laura, Cassanello, Michela, Cerone, Roberto, Perfumo, Francesco
Published in Pediatric nephrology (Berlin, West) (01.05.2007)
Published in Pediatric nephrology (Berlin, West) (01.05.2007)
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