Claudio Rabacchi
University of Modena and Reggio Emilia
31 Papers
67 Citations
Claudio Rabacchi is an academic researcher from University of Modena and Reggio Emilia. The author has contributed to research in topics: Medicine & Compound heterozygosity. The author has an hindex of 12, co-authored 26 publications.
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Papers
Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.
Claudio Rabacchi,Livia Pisciotta,Angelo B. Cefalù,Davide Noto,R. Fresa,Patrizia Tarugi,Maurizio Averna,Stefano Bertolini,Sebastiano Calandra +8 more
TL;DR: Systematic analysis of close relatives of mutation carriers is an efficient way to identify heterozygotes who may develop severe HTG and 36 rare LPL variants were found, 15 of which not reported previously.
Homozygous familial hypercholesterolemia in Italy: Clinical and molecular features
Stefano Bertolini,Sebastiano Calandra,Marcello Arca,Maurizio Averna,Alberico L. Catapano,Patrizia Tarugi,Andrea Bartuli,Marco Bucci,Paola Sabrina Buonuomo,Paolo Calabrò,Manuela Casula,Angelo B. Cefalù,Arrigo F G Cicero,Sergio D'Addato,Laura D'Erasmo,Tommaso Fasano,Gabriella Iannuzzo,Anastasia Ibba,Emanuele A. Negri,Andrea Pasta,Chiara Pavanello,Livia Pisciotta,Claudio Rabacchi,Carlo Ripoli,Tiziana Sampietro,Francesco Sbrana,Fulvio Sileo,Patrizia Suppressa,Chiara Trenti,M. G. Zenti +29 more
TL;DR: In this cohort, the phenotypic variability of HoFH was dependent on the candidate gene involved and the functional impact of its variants on the LDL receptor pathway.
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Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency
Tommaso Fasano,Paolo Zanoni,Claudio Rabacchi,Livia Pisciotta,Elda Favari,Maria Pia Adorni,Patrick Deegan,Adrian J Park,Thinn Hlaing,Michael D. Feher,Ben Jones,Asli Subasioglu Uzak,Fatih Kardaş,Andrea Dardis,Annalisa Sechi,Bruno Bembi,Pietro Minuz,Stefano Bertolini,Franco Bernini,Sebastiano Calandra +19 more
TL;DR: This study confirms the allelic heterogeneity of TD and suggests that the diagnosis of TD must be considered in patients with an unexplained splenomegaly, associated with thrombocytopenia and hypocholesterolemia.
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Severe Hypertriglyceridemia in a Newborn with Monogenic Lipoprotein Lipase Deficiency: An Unconventional Therapeutic Approach with Exchange Transfusion
Lorenza Pugni,Enrica Riva,Carlo Pietrasanta,Claudio Rabacchi,Stefano Bertolini,Cristina Pederiva,Fabio Mosca,Sebastiano Calandra +7 more
- 20 Oct 2013
TL;DR: ET appears to be a safe procedure, alternative to plasmapheresis, to prevent acute pancreatitis in young infants with s HTG due to LPL deficiency, and is the first case of sHTG treated with ET in a neonate reported in the literature.
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
Paola Sabrina Buonuomo,Andrea Bartuli,Claudio Rabacchi,Stefano Bertolini,Sebastiano Calandra +4 more
TL;DR: GPIHBP1 mutations should be considered in neonates with chylomicronemia negative for mutations in LPL gene, according to the predicted translation product of the mutant messenger RNA.
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