Publications by authors named "Roberto Cerone"

18Publications

Phenotype, treatment practice and outcome in the cobalamin-dependent remethylation disorders and MTHFR deficiency: Data from the E-HOD registry.

J Inherit Metab Dis 2019 03 17;42(2):333-352. Epub 2019 Feb 17.

Inherited Metabolic Diseases Clinic, Section of Clinical Genetics and Metabolism, University of Colorado Denver, Aurora, Colorado.

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http://dx.doi.org/10.1002/jimd.12041DOI Listing
March 2019

Why do premature newborn infants display elevated blood adenosine levels?

Med Hypotheses 2016 May 12;90:53-6. Epub 2016 Mar 12.

Neonatal Intensive Care Unit, Istituto Giannina Gaslini, Genova, Italy.

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http://dx.doi.org/10.1016/j.mehy.2016.03.007DOI Listing
May 2016

Testing for tetrahydrobiopterin responsiveness in patients with hyperphenylalaninemia due to phenylalanine hydroxylase deficiency.

Adv Ther 2013 Mar 20;30(3):212-28. Epub 2013 Feb 20.

Reference Center for Neonatal Screening and Diagnosis for Metabolic Diseases of University-Istituto Giannina Gaslini, Via 5 maggio, 3916147 Genoa, Italy.

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http://link.springer.com/10.1007/s12325-013-0011-x
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http://dx.doi.org/10.1007/s12325-013-0011-xDOI Listing
March 2013

Common criteria among States for storage and use of dried blood spot specimens after newborn screening.

Ann Ist Super Sanita 2012 ;48(2):119-21

Unità di Bioetica, Presidenza, Istituto Superiore di Sanità, Rome, Italy.

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http://www.iss.it/binary/publ/cont/ANN_12_02_03.pdf
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http://dx.doi.org/10.4415/ANN_12_02_03DOI Listing
November 2012

Effect of carnitine supplementation on lipid profile and anemia in children on chronic dialysis.

Pediatr Nephrol 2007 May 3;22(5):727-33. Epub 2007 Feb 3.

Nephrology and Dialysis Unit, G. Gaslini Institute, Largo G. Gaslini, 5, 16148, Genova, Italy.

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http://dx.doi.org/10.1007/s00467-006-0408-8DOI Listing
May 2007

von Willebrand factor multimer composition is modified following oral methionine load in women with thrombosis, but not in healthy women.

Blood Coagul Fibrinolysis 2005 Jun;16(4):267-73

Thrombosis and Hemostasis Unit, Department of Hematology and Oncology, IRCCS G. Gaslini, Largo G. Gaslini 5, I-16147 Genoa, Italy.

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http://dx.doi.org/10.1097/01.mbc.0000169219.93054.92DOI Listing
June 2005

Homocysteine, folate, vitamin B12 levels, and C677T MTHFR mutation in children with renal failure.

Pediatr Nephrol 2003 Mar 21;18(3):225-9. Epub 2003 Feb 21.

Unità Operativa di Nefrologia, Istituto G. Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1007/s00467-002-1058-0DOI Listing
March 2003

Mutations in human glycine N-methyltransferase give insights into its role in methionine metabolism.

Hum Genet 2002 Jan 7;110(1):68-74. Epub 2001 Dec 7.

Department of Biochemistry, Medical Center Vanderbilt University, 620 Light Hall, Nashville, TN 37232, USA.

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http://dx.doi.org/10.1007/s00439-001-0648-4DOI Listing
January 2002