Publications by authors named "Cristiano Rizzo"

35Publications

The urinary organic acids profile in single large-scale mitochondrial DNA deletion disorders.

Clin Chim Acta 2018 Jun 10;481:156-160. Epub 2018 Mar 10.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Viale di S. Paolo 15, 00146 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2018.03.002DOI Listing
June 2018

3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiency.

Clin Chim Acta 2017 Aug 17;471:95-100. Epub 2017 May 17.

Department of Human Genetics, Technical University Munich, Munich, Germany; Institute of Human Genetics, Helmholtz Zentrum, Neuherberg, Germany; Department of Pediatrics, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg, Austria. Electronic address:

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http://dx.doi.org/10.1016/j.cca.2017.05.023DOI Listing
August 2017

Liver transplant in ethylmalonic encephalopathy: a new treatment for an otherwise fatal disease.

Brain 2016 Apr 25;139(Pt 4):1045-51. Epub 2016 Feb 25.

Department of Surgery and Transplantation, Bambino Gesù Children's Research Hospital IRCCS, Rome, Italy.

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http://dx.doi.org/10.1093/brain/aww013DOI Listing
April 2016

Evaluation of plasma cholestane-3β,5α,6β-triol and 7-ketocholesterol in inherited disorders related to cholesterol metabolism.

J Lipid Res 2016 Mar 5;57(3):361-7. Epub 2016 Jan 5.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS (Institute for Treatment and Research), Rome, Italy.

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http://dx.doi.org/10.1194/jlr.M061978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4766985PMC
March 2016

Thiamine Deficiency in a Developed Country: Acute Lactic Acidosis in Two Neonates Due to Unsupplemented Parenteral Nutrition.

JPEN J Parenter Enteral Nutr 2016 08 15;40(6):886-9. Epub 2015 Jan 15.

Department of Neonatology, Bambino Gesù Children's Hospital, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, Italy.

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http://dx.doi.org/10.1177/0148607114568316DOI Listing
August 2016

Differential effects of extracellular vesicles secreted by mesenchymal stem cells from different sources on glioblastoma cells.

Expert Opin Biol Ther 2015 Apr 25;15(4):495-504. Epub 2014 Dec 25.

Bambino Gesù Children's Hospital, Regenerative Medicine Unit, IRCCS , Piazza Sant'Onofrio 4, Rome 00165 , Italy.

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http://dx.doi.org/10.1517/14712598.2015.997706DOI Listing
April 2015

Determination of plasma pipecolic acid by an easy and rapid liquid chromatography-tandem mass spectrometry method.

Clin Chim Acta 2015 Feb 15;440:108-12. Epub 2014 Nov 15.

Department of Laboratory Medicine, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2014.11.014DOI Listing
February 2015

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

Nutrition 2014 Jul-Aug;30(7-8):948-52. Epub 2014 Mar 13.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Department of Pediatric Medicine, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://search.proquest.com/openview/d35d7f422a0899cd6bd704be
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http://linkinghub.elsevier.com/retrieve/pii/S089990071400124
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http://dx.doi.org/10.1016/j.nut.2014.02.019DOI Listing
February 2015

Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry.

Clin Chim Acta 2014 Feb 22;429:30-3. Epub 2013 Nov 22.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Research Hospital, IRCCS, Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2013.11.016DOI Listing
February 2014

Riboflavin transporter 3 involvement in infantile Brown-Vialetto-Van Laere disease: two novel mutations.

J Med Genet 2013 Feb 14;50(2):104-7. Epub 2012 Dec 14.

Unit of Neuromuscular and Neurodegenerative Disorders, Laboratory of Molecular Medicine, Bambino Gesu' Children’s Research Hospital, Rome, Italy

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http://jmg.bmj.com/lookup/doi/10.1136/jmedgenet-2012-101204
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http://dx.doi.org/10.1136/jmedgenet-2012-101204DOI Listing
February 2013

Creatine metabolism in urea cycle defects.

J Inherit Metab Dis 2012 Jul 30;35(4):647-53. Epub 2012 May 30.

Division of Metabolism and Research Unit of Metabolic Biochemistry, Bambino Gesù Children's Hospital, IRCCS, Piazza S. Onofrio 4, 00165, Rome, Italy.

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http://dx.doi.org/10.1007/s10545-012-9494-xDOI Listing
July 2012

Simultaneous determination of creatine and guanidinoacetate in plasma by liquid chromatography-tandem mass spectrometry (LC-MS/MS).

J Pharm Biomed Anal 2011 Dec 16;56(4):792-8. Epub 2011 Jun 16.

Division of Metabolism, Bambino Gesù Pediatric Hospital, Rome, Italy.

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http://dx.doi.org/10.1016/j.jpba.2011.06.006DOI Listing
December 2011

Analysis of organic acids and acylglycines for the diagnosis of related inborn errors of metabolism by GC- and HPLC-MS.

Methods Mol Biol 2011 ;708:73-98

Mass Spectrometry, Clinical Chemistry and Pharmacology Laboratory, Department of Pharmacology, University of Florence, Meyer Children's Hospital, Florence, Italy.

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http://link.springer.com/content/pdf/10.1007/978-1-61737-985
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http://link.springer.com/10.1007/978-1-61737-985-7_4
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http://dx.doi.org/10.1007/978-1-61737-985-7_4DOI Listing
April 2011

Detection of subclinical electroencephalographic seizure patterns with multichannel amplitude-integrated EEG in full-term neonates.

Clin Neurophysiol 2009 Nov 25;120(11):1916-1922. Epub 2009 Sep 25.

Department of Clinical Neurophysiology, University Medical Center Utrecht/Wilhelmina Children's Hospital, Rudolf Magnus Institute of Neuroscience Utrecht, The Netherlands.

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https://linkinghub.elsevier.com/retrieve/pii/S13882457090051
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http://dx.doi.org/10.1016/j.clinph.2009.08.015DOI Listing
November 2009

Urine acylcarnitine analysis by ESI-MS/MS: a new tool for the diagnosis of peroxisomal biogenesis disorders.

Clin Chim Acta 2008 Dec 28;398(1-2):86-9. Epub 2008 Aug 28.

Division of Metabolism, Bambino Gesù Research Institute, Piazza S. Onofrio 4, 00165 Rome, Italy.

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http://dx.doi.org/10.1016/j.cca.2008.08.018DOI Listing
December 2008

[Diagnosis and treatment of methylmalonic aciduria: a case report].

Invest Clin 2007 Mar;48(1):99-105

Centro de Biociencias y Medicina Molecular, Instituto de Estudios Avanzados, Venezuela.

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March 2007

Off-line removal of TMS-induced artifacts on human electroencephalography by Kalman filter.

J Neurosci Methods 2007 May 7;162(1-2):293-302. Epub 2007 Jan 7.

Department of Information Engineering, University of Siena, Via Roma 56, 53100 Siena, Italy.

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http://dx.doi.org/10.1016/j.jneumeth.2006.12.013DOI Listing
May 2007

Impaired activity of the gamma-glutamyl cycle in nephropathic cystinosis fibroblasts.

Pediatr Res 2006 Feb;59(2):332-5

Department of Nephrology and Urology, Bambino Gesù Children's Hospital and Research Institute, Rome, Italy.

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http://dx.doi.org/10.1203/01.pdr.0000196370.57200.daDOI Listing
February 2006

Ethylmalonic encephalopathy: further clinical and neuroradiological characterization.

J Neurol 2002 Oct;249(10):1446-50

Department of Pediatrics, Obstetrics, and Reproductive Medicine, University of Siena, Viale M. Bracci--Le scotte, 53100 Siena, Italy.

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http://dx.doi.org/10.1007/s00415-002-0880-4DOI Listing
October 2002

Inborn errors of metabolism in the Italian pediatric population: a national retrospective survey.

J Pediatr 2002 Mar;140(3):321-7

Department of Metabolism, Bambino Gesù Children's Hospital-Scientific Institute (IRCCS), Rome, Italy.

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http://dx.doi.org/10.1067/mpd.2002.122394DOI Listing
March 2002