Zobrazeno 1 - 8
of 8
pro vyhledávání: '"Claudio Priore Oliva"'
Autor:
Stefano Bertolini, Sebastiano Calandra, A. Bellocchio, R. Fresa, Claudio Priore Oliva, V. Guido, Livia Pisciotta
Publikováno v:
Clinica Chimica Acta. 412:2194-2198
Background Common variants of APOA5 gene affect plasma triglyceride (TG) in the population and a number of rare variants APOA5 have been reported in individuals with hypertriglyceridemia (HTG). Methods APOA5 was analysed in 98 HTG individuals (plasma
Autor:
Livia Pisciotta, Claudio Priore Oliva, Frank G. Schaap, Sebastiano Calandra, Patrizia Tarugi, Stefano Bertolini, A. Bellocchio, Ornella Guardamagna
Publikováno v:
Atherosclerosis, 188(1), 215-217. Elsevier Ireland Ltd
In this review we compare the phenotype and lipoprotein abnormalities of some patients who were found to carry mutations in the APOA5 gene predicted to result in apolipoprotein A-V deficiency.The sequencing of the APOA5 gene in patients with primary
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a65055158a2443dc549bc1e97418b6a9
http://hdl.handle.net/11567/219180
http://hdl.handle.net/11567/219180
Autor:
Claudio Priore Oliva, Livia Pisciotta, Giovanni Mario Pes, Stefano Bertolini, A. Bellocchio, Alfredo Cantafora, Marcello Arca, R. Fresa, Sebastiano Calandra, Lilla Di Scala
Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of function of an adaptor protein (ARH protein) required for receptor-mediated hepatic uptake of LDL. ARH is a phenocopy of homozygous familial hypercholesterolem
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::26152338c2ef278b90584ba93a9f437d
https://hdl.handle.net/11380/308251
https://hdl.handle.net/11380/308251
Autor:
Dilip D. Patel, Livia Pisciotta, Claudio Priore Oliva, Sebastiano Calandra, Maurizio Averna, A. Bellocchio, Alfredo Cantafora, Davide Noto, R. Fresa, Stefano Bertolini, Angelo B. Cefalù, Patrizia Tarugi
Publikováno v:
Atherosclerosis. 186(2)
Patients homozygous or Compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels. more extensive xanthomatosis and more severe premature coronary disease (pCAD) than simple heterozygot
Autor:
Patrizia Tarugi, Alfredo Cantafora, Livia Pisciotta, Sebastiano Calandra, Stefano Bertolini, A. Bellocchio, Alberico L. Catapano, Claudio Priore Oliva, Maria Paola Sambataro, Giovanni Li Volti
Objective— Mutations in LPL or APOC2 genes are recognized causes of inherited forms of severe hypertriglyceridemia. However, some hypertrigliceridemic patients do not have mutations in either of these genes. Because inactivation or hyperexpression
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1454e8ad4fcc6a0a48abcaafb3b96d42
https://hdl.handle.net/11380/307256
https://hdl.handle.net/11380/307256
An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the normalization of the biochemistry, there was little clinical improvement, and at 18 months of age
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1d26d9211a9c105439eb3b0dacd2cebf
https://hdl.handle.net/11380/304925
https://hdl.handle.net/11380/304925
Autor:
Callum J. Wilson, Claudio Priore Oliva, Franco Maggi, Alberico L. Catapano, Sebastiano Calandra
Publikováno v:
Annals of Neurology; Jun2003, Vol. 53 Issue 6, p807-810, 4p