Publications by authors named "Roberto Cerone"

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International best practice for the evaluation of responsiveness to sapropterin dihydrochloride in patients with phenylketonuria.
Ania C Muntau, Darius J Adams, Amaya Bélanger-Quintana, Tatiana V Bushueva, Roberto Cerone

Mol Genet Metab· May 2019

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Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.
Martina Huemer, Daria Diodato, Diego Martinelli, Giorgia Olivieri, Henk Blom, Roberto Cerone

J Inherit Metab Dis· March 2019

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Newborn screening for homocystinurias: Recent recommendations versus current practice.
Rebecca Keller, Petr Chrastina, Markéta Pavlíková, Sofía Gouveia, Antonia Ribes, Roberto Cerone

J Inherit Metab Dis· January 2019

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Raising Awareness of False Positive Newborn Screening Results Arising from Pivalate-Containing Creams and Antibiotics in Europe When Screening for Isovaleric Acidaemia.
James R Bonham, Rachel S Carling, Martin Lindner, Leifur Franzson, Rolf Zetterstrom, Roberto Cerone

Int J Neonatal Screen· March 2018

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Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency.
Martina Huemer, Daria Diodato, Bernd Schwahn, Manuel Schiff, Anabela Bandeira, Roberto Cerone

J Inherit Metab Dis· January 2017

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Why do premature newborn infants display elevated blood adenosine levels?
Isabella Panfoli, Michela Cassanello, Matteo Bruschettini, Marina Colella, Roberto Cerone

Med Hypotheses· May 2016

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Clinical presentation and outcome in a series of 88 patients with the cblC defect.
Sabine Fischer, Martina Huemer, Matthias Baumgartner, Federica Deodato, Diana Ballhausen, Roberto Cerone

J Inherit Metab Dis· September 2014

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Long-term follow-up and outcome of phenylketonuria patients on sapropterin: a retrospective study.
Stefanie Keil, Karen Anjema, Francjan J van Spronsen, Nilo Lambruschini, Alberto Burlina, Roberto Cerone

Pediatrics· June 2013

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Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.
Roberto Cerone, Generoso Andria, Marcello Giovannini, Vincenzo Leuzzi, Enrica Riva

Adv Ther· March 2013

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Common criteria among States for storage and use of dried blood spot specimens after newborn screening.
Carlo Petrini, Antonella Olivieri, Carlo Corbetta, Roberto Cerone, Giuliano D'Agnolo

Ann Ist Super Sanita· November 2012

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Outcome of infants diagnosed with 3-methyl-crotonyl-CoA-carboxylase deficiency by newborn screening.
Georgianne L Arnold, Denise Salazar, Julie A Neidich, Pim Suwannarat, Brett H Graham, Roberto Cerone

Mol Genet Metab· August 2012

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Storage and use of residual newborn screening dot blood samples in Italy.
Carlo Petrini, Antonella Olivieri, Carlo Corbetta, Roberto Cerone, Giuliano D'Agnolo

Ital J Pediatr· May 2011

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A spectrum of LMX1B mutations in Nail-Patella syndrome: new point mutations, deletion, and evidence of mosaicism in unaffected parents.
Monica Marini, Renata Bocciardi, Stefania Gimelli, Marco Di Duca, Maria T Divizia, Roberto Cerone

Genet Med· July 2010

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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type.
Célia Nogueira, Chiara Aiello, Roberto Cerone, Esmeralda Martins, Ubaldo Caruso

Mol Genet Metab· April 2008

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Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis.
Enrico Verrina, Ubaldo Caruso, Maria Grazia Calevo, Francesco Emma, Palma Sorino, Roberto Cerone

Pediatr Nephrol· May 2007

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von Willebrand factor multimer composition is modified following oral methionine load in women with thrombosis, but not in healthy women.
Paolo Perutelli, Stefano Amato, Giuseppe Minniti, Federico Bottini, Maria G Calevo, Roberto Cerone

Blood Coagul Fibrinolysis· June 2005

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Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure.
Alberto Canepa, Alba Carrea, Gianluca Caridi, Laura Dertenois, Giuseppe Minniti, Roberto Cerone

Pediatr Nephrol· March 2003

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Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features.
Roberta Biancheri, Roberto Cerone, Andrea Rossi, Maria Cristina Schiaffino, Ubaldo Caruso

Epilepsia· June 2002

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Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.
Zigmund Luka, Roberto Cerone, John A Phillips, Harvey S Mudd, Conrad Wagner

Hum Genet· January 2002

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