[HTML][HTML] Lysosomal acid lipase deficiency–an under-recognized cause of dyslipidaemia and liver dysfunction
Lysosomal acid lipase deficiency (LAL-D) is a rare autosomal recessive lysosomal storage
disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of …
disease caused by deleterious mutations in the LIPA gene. The age at onset and rate of …
[HTML][HTML] Clinical outcome measures in juvenile idiopathic arthritis
…, B Schiappapietra, S Dav́, S Calandra, S Lanni… - Pediatric …, 2016 - Springer
… of a physician’s global rating of disease activity ≤3.4, a parent’s global rating of well-being
≤2.5 and a swollen joint count ≤1 in polyarthritis, and as a physician’s global assessment of …
≤2.5 and a swollen joint count ≤1 in polyarthritis, and as a physician’s global assessment of …
Molecular diagnosis of hypobetalipoproteinemia: an ENID review
…, D Noto, L Magnolo, L Cattin, S Bertolini, S Calandra - Atherosclerosis, 2007 - Elsevier
Primary hypobetalipoproteinemia (HBL) includes a group of genetic disorders: abetalipoproteinemia
(ABL) and chylomicron retention disease (CRD), with a recessive transmission, and …
(ABL) and chylomicron retention disease (CRD), with a recessive transmission, and …
Autosomal recessive hypercholesterolemia caused by mutations in a putative LDL receptor adaptor protein
…, G Zuliani, R Fellin, M Maioli, S Calandra, S Bertolini… - Science, 2001 - science.org
Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density
lipoprotein receptors (LDLR). Two inherited forms of hypercholesterolemia result from loss of …
lipoprotein receptors (LDLR). Two inherited forms of hypercholesterolemia result from loss of …
[PDF][PDF] Q‐T interval prolongation in cirrhosis: prevalence, relationship with severity, and etiology of the disease and possible pathogenetic factors
M Bernardi, S Calandra, A Colantoni, F Trevisani… - …, 1998 - Wiley Online Library
… Abbreviations: ECG, electrocardiogram; CA, conjugated cholic acid; CDCA, conjugated
chenodeoxycholic acid; QTc, QT interval corrected for heart rate according to Bazett’s formula; QT…
chenodeoxycholic acid; QTc, QT interval corrected for heart rate according to Bazett’s formula; QT…
Worldwide experience of homozygous familial hypercholesterolaemia: retrospective cohort study
…, M Bucci, PS Buonuomo, P Calabṛ, S Calandra… - The Lancet, 2022 - thelancet.com
Background Homozygous familial hypercholesterolaemia (HoFH) is a rare inherited disorder
resulting in extremely elevated low-density lipoprotein cholesterol levels and premature …
resulting in extremely elevated low-density lipoprotein cholesterol levels and premature …
The molecular basis of lecithin: cholesterol acyltransferase deficiency syndromes: a comprehensive study of molecular and biochemical findings in 13 unrelated Italian …
…, F Veglia, S Calandra, S Bertolini… - … , and vascular biology, 2005 - Am Heart Assoc
… Plasma total and LDL cholesterol and triglyceride levels showed a wide interindividual
variability, even among cases carrying the same mutation(s) in the LCAT gene (Table 3). No clear …
variability, even among cases carrying the same mutation(s) in the LCAT gene (Table 3). No clear …
Inherited apolipoprotein AV deficiency in severe hypertriglyceridemia
…, P Tarugi, S Bertolini, S Calandra - … , and vascular biology, 2005 - Am Heart Assoc
… In this context, we tried to assess the capacity of proband’s plasma (apoA-V–deficient plasma)
to act as activator of LPL in vitro. We found that when apoA-V–deficient plasma was used …
to act as activator of LPL in vitro. We found that when apoA-V–deficient plasma was used …
Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy
OBJECTIVE: To determine the spectrum of gene mutations and the genotype–phenotype
correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy…
correlations in patients with Autosomal Dominant Hypercholesterolemia (ADH) identified in Italy…
Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations
…, HAW Neil, M Seed, S Bertolini, S Calandra… - Journal of medical …, 2014 - jmg.bmj.com
Background Familial hypercholesterolaemia (FH) is an autosomal dominant disease of lipid
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …
metabolism, which leads to early coronary heart disease. Mutations in LDLR, APOB and …