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JOURNAL OF CLINICAL LIPIDOLOGY
Rivista
Codice:
E193794
ISSN:
1933-2874
Dati Generali
Dati Generali
Pubblicazioni (15)
Pulisci
Ordina Pubblicazioni:
ascendente
decrescente
A 3-day-old neonate with severe hypertriglyceridemia from novel mutations of the GPIHBP1 gene
Articolo
Clinical and biochemical characteristics of individuals with low cholesterol syndromes: A comparison between familial hypobetalipoproteinemia and familial combined hypolipidemia.
Articolo
Clinical and genetic features of 3 patients with familial chylomicronemia due to mutations in GPIHBP1 gene
Articolo
Comparison of two polygenic risk score to identify non-monogenic primary hypocholesterolemias in a large cohort of Italian hypocholesterolemic subjects
Articolo
Familial chylomicronemia syndrome. A sixty year follow-up in two siblings and their kindreds. Nosological and clinical considerations
Articolo
HEPATIC NUCLEAR RECEPTOR EXPRESSION AND REGULATION OF BILE ACID SYNTHESIS IN HUMANS
Abstract
In vitro functional characterization of splicing variants of the APOB gene found in familial hypobetalipoproteinemia
Articolo
Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.
Articolo
NAFLD AND TYPE 2 DIABETES: A GENETIC OR METABOLIC ISSUE?
Abstract
Novel missense variants in LCAT and APOB genes in an Italian kindred with familial lecithin:cholesterol acyltransferase deficiency and hypobetalipoproteinemia.
Articolo
Novel mutations in the GPIHBP1 gene identified in 2 patients with recurrent acute pancreatitis
Articolo
Novel mutations of SAR1B gene in four children with chylomicron retention disease
Articolo
Phenotypic variability in 4 homozygous familial hypercholesterolemia siblings compound heterozygous for LDLR mutations
Articolo
RISK FOR CARDIOVASCULAR EVENTS IN AN ITALIAN POPULATION OF PATIENTS WITH TYPE 2 DIABETES
Abstract
The Janus-faced manifestations of homozygous familial hypobetalipoproteinemia due to apolipoprotein B truncations
Articolo
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