Carola Giacobbe
Naples, Italy
Last Updated: 09/26/2026
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Found 14 publications
Case Report: Genetic Analysis of PEG-Asparaginase Induced Severe Hypertriglyceridemia in an Adult With Acute Lymphoblastic Leukaemia.
Journal: Frontiers in genetics
Published: December 10, 2021
Rare variants in PKHD1 associated with Caroli syndrome: Two case reports.
Journal: Molecular genetics & genomic medicine
Published: June 28, 2021
Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.
Journal: Clinical genetics
Published: June 03, 2021
Association between causative mutations and response to PCSK9 inhibitor therapy in subjects with familial hypercholesterolemia: A single center real-world study.
Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: March 03, 2021
Correlation between low adenosine A2A receptor expression and hypercholesterolemia: A new component of the cardiovascular risk?
Journal: Biochimica et biophysica acta. Molecular and cell biology of lipids
Published: September 04, 2020
Changes in carotid stiffness in patients with familial hypercholesterolemia treated with Evolocumab®: A prospective cohort study.
Journal: Nutrition, metabolism, and cardiovascular diseases : NMCD
Published: December 24, 2019
A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.
Journal: Journal of clinical medicine
Published: December 10, 2019
Familial hypercholesterolemia: A complex genetic disease with variable phenotypes.
Journal: European journal of medical genetics
Published: August 29, 2019
A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.
Journal: Acta neurologica Belgica
Published: August 09, 2019
Lipid profile and genetic status in a familial hypercholesterolemia pediatric population: exploring the LDL/HDL ratio.
Journal: Clinical chemistry and laboratory medicine
Published: September 21, 2018
Characterization of two novel pathogenic variants at compound heterozygous status in lipase maturation factor 1 gene causing severe hypertriglyceridemia.
Journal: Journal of clinical lipidology
Published: February 09, 2018
Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.
Journal: Scientific reports
Published: July 06, 2017
Last Updated: 09/26/2026