Claudio Rabacchi

Claudio Rabacchi

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Claudio Rabacchi

Claudio Rabacchi

Publications by authors named "Claudio Rabacchi"

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19Publications

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Novel mutations of SAR1B gene in four children with chylomicron retention disease.

J Clin Lipidol 2019 May 30. Epub 2019 May 30.

Department of Life Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2019.05.013DOI Listing
May 2019

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

J Clin Lipidol 2017 Nov - Dec;11(6):1329-1337.e3. Epub 2017 Sep 4.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena & Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2017.08.017DOI Listing
July 2018

Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene.

J Clin Lipidol 2016 Jul-Aug;10(4):915-921.e4. Epub 2016 Mar 23.

Department of Life Sciences, University of Modena and Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.03.009DOI Listing
October 2017

Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations.

J Clin Lipidol 2016 Jul-Aug;10(4):944-952.e1. Epub 2016 Apr 21.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2016.04.005DOI Listing
October 2017

The study of familial hypercholesterolemia in Italy: A narrative review.

Atheroscler Suppl 2017 Oct;29:1-10

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosissup.2017.07.003DOI Listing
October 2017

Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis.

J Clin Lipidol 2016 Jan-Feb;10(1):92-100.e1. Epub 2015 Sep 25.

Department of Medicine and Dermatology, Lipids and Atherosclerosis Laboratory, CIMES, University of Málaga, Málaga, Spain; Internal Medicine Unit, Virgen de la Victoria University Hospital, Málaga, Spain.

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http://dx.doi.org/10.1016/j.jacl.2015.09.007DOI Listing
November 2016

A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene.

J Clin Lipidol 2015 Mar-Apr;9(2):265-70. Epub 2014 Oct 13.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Modena, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.jacl.2014.10.003DOI Listing
January 2016

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Atherosclerosis 2015 Jul 1;241(1):79-86. Epub 2015 May 1.

Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, Italy. Electronic address:

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http://dx.doi.org/10.1016/j.atherosclerosis.2015.04.815DOI Listing
July 2015

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

JIMD Rep 2014 20;13:59-64. Epub 2013 Oct 20.

NICU, Department of Clinical Sciences and Community Health, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, University of Milan, Via Commenda 12, 20122, Milan, Italy,

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http://dx.doi.org/10.1007/8904_2013_272DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4110331PMC
July 2014

A man with low cholesterol and weakness of the lower limbs.

Intern Emerg Med 2014 Jun 27;9(4):449-53. Epub 2014 Feb 27.

Metabolic Diseases Clinic, Geriatric Operating Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, University of Milan, Milan, Italy,

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http://link.springer.com/content/pdf/10.1007/s11739-014-1059
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http://link.springer.com/10.1007/s11739-014-1059-6
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http://dx.doi.org/10.1007/s11739-014-1059-6DOI Listing
June 2014

Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy.

Atherosclerosis 2013 Apr 19;227(2):342-8. Epub 2013 Jan 19.

Department of Internal Medicine, University of Genova, Viale Benedetto XV, no. 6, I-16132 Genova, Italy.

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http://dx.doi.org/10.1016/j.atherosclerosis.2013.01.007DOI Listing
April 2013

Lysosomal lipase deficiency: molecular characterization of eleven patients with Wolman or cholesteryl ester storage disease.

Mol Genet Metab 2012 Mar 17;105(3):450-6. Epub 2011 Dec 17.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, Modena, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2011.12.008DOI Listing
March 2012

An apparent inconsistency in parent to offspring transmission of point mutations of LDLR gene in familial hypercholesterolemia.

Clin Chim Acta 2009 Aug 23;406(1-2):75-80. Epub 2009 May 23.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.05.017DOI Listing
August 2009

A novel deletion of BRCA1 gene that eliminates the ATG initiation codon without affecting the promoter region.

Clin Chim Acta 2009 May 25;403(1-2):249-53. Epub 2009 Mar 25.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.cca.2009.02.020DOI Listing
May 2009

Functional analysis of two novel splice site mutations of APOB gene in familial hypobetalipoproteinemia.

Mol Genet Metab 2009 Feb 11;96(2):66-72. Epub 2008 Dec 11.

Department of Biomedical Sciences, University of Modena and Reggio Emilia, Via Campi 287, I-41100 Modena, Italy.

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http://dx.doi.org/10.1016/j.ymgme.2008.10.016DOI Listing
February 2009