Search Results - "Oliva, Claudio Priore"

Inherited Apolipoprotein A-V Deficiency in Severe Hypertriglyceridemia by Oliva, Claudio Priore, Pisciotta, Livia, Volti, Giovanni Li, Sambataro, Maria Paola, Cantafora, Alfredo, Bellocchio, Antonella, Catapano, Alberico, Tarugi, Patrizia, Bertolini, Stefano, Calandra, Sebastiano

“…OBJECTIVE—Mutations in LPL or APOC2 genes are recognized causes of inherited forms of severe hypertriglyceridemia. However, some hypertrigliceridemic patients…”
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Additive effect of mutations in LDLR and PCSK9 genes on the phenotype of familial hypercholesterolemia by Pisciotta, Livia, Oliva, Claudio Priore, Cefalù, Angelo Baldassare, Noto, Davide, Bellocchio, Antonella, Fresa, Raffaele, Cantafora, Alfredo, Patel, Dilip, Averna, Maurizio, Tarugi, Patrizia, Calandra, Sebastiano, Bertolini, Stefano

“…Patients homozygous or compound heterozygous for LDLR mutations or double heterozygous for LDLR and apo B R3500Q mutation have higher LDL-C levels, more…”
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Autosomal recessive hypercholesterolemia (ARH) and homozygous familial hypercholesterolemia (FH): A phenotypic comparison by Pisciotta, Livia, Oliva, Claudio Priore, Pes, Giovanni Mario, Di Scala, Lilla, Bellocchio, Antonella, Fresa, Raffaele, Cantafora, Alfredo, Arca, Marcello, Calandra, Sebastiano, Bertolini, Stefano

“…Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of function of an adaptor protein (ARH protein) required for…”
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Apolipoprotein C-II deficiency presenting as a lipid encephalopathy in infancy by Wilson, Callum J., Oliva, Claudio Priore, Maggi, Franco, Catapano, Alberico L., Calandra, Sebastiano

“…An infant presented with massive hyperchylomicronemia and a severe encephalopathy. MRI showed marked lipid deposition throughout the brain. Despite the…”
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Two novel rare variants of APOA5 gene found in subjects with severe hypertriglyceridemia by Pisciotta, Livia, Fresa, Raffaele, Bellocchio, Antonella, Guido, Virgilia, Oliva, Claudio Priore, Calandra, Sebastiano, Bertolini, Stefano

“…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…”
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A novel sequence variant in APOA5 gene found in patients with severe hypertriglyceridemia by Oliva, Claudio Priore, Pisciotta, Livia, Guardamagna, Ornella, Bellocchio, Antonella, Tarugi, Patrizia, Schaap, Frank G., Bertolini, Stefano, Calandra, Sebastiano

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APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency by Calandra, Sebastiano, Oliva, Claudio Priore, Tarugi, Patrizia, Bertolini, Stefano

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APOA5 and triglyceride metabolism, lesson from human APOA5 deficiency by Calandra, Sebastiano, Priore Oliva, Claudio, Tarugi, Patrizia, Bertolini, Stefano

“…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…”
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