R A Hegele
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Explore the profile of R A Hegele including associated specialties, affiliations and a list of published articles.
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Articles
231
Citations
2898
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Recent Articles
1.
Cakmak B, Yeral S, Ozcan B, Pariltay E, Ozgul S, Simsir I, et al.
J Clin Lipidol
. 2024 Apr;
18(3):e423-e429.
PMID: 38627169
Background: This study aims to show the clinical and biochemical features in patients with severe hypertriglyceridemia (HTG) associated with rare variants in the apolipoprotein A-V (APOA5) gene. Materials And Methods:...
2.
Baass A, Paquette M, Bernard S, Hegele R
J Intern Med
. 2019 Dec;
287(4):340-348.
PMID: 31840878
Familial chylomicronemia syndrome (FCS) is a rare autosomal recessive disorder of chylomicron metabolism causing severe elevation of triglyceride (TG) levels (>10 mmol L ). This condition is associated with a...
3.
Berberich A, Ziada A, Zou G, Hegele R
J Intern Med
. 2019 May;
286(6):644-650.
PMID: 31077464
Background: Severe hypertriglyceridemia (serum triglyceride >10 mmol L ) is implicated in ~9% of acute pancreatitis cases. Certain guidelines list severe hypertriglyceridemia as an indication for plasmapheresis. Objective: We assembled...
4.
Silveira C, MacKinley J, Coleman K, Li Z, Finger E, Bartha R, et al.
BMC Neurol
. 2019 Feb;
19(1):20.
PMID: 30738426
Background: Currently there are no disease-modifying treatments for Parkinson's disease dementia (PDD), a condition linked to aggregation of the protein α-synuclein in subcortical and cortical brain areas. One of the...
5.
Scipione C, McAiney J, Simard D, Bazzi Z, Gemin M, Romagnuolo R, et al.
J Thromb Haemost
. 2017 Jun;
15(9):1834-1844.
PMID: 28632940
Summary: Background Lipoprotein(a) (Lp[a]) is a causal risk factor for a variety of cardiovascular diseases. Apolipoprotein(a) (apo[a]), the distinguishing component of Lp(a), is homologous with plasminogen, suggesting that Lp(a) can...
6.
Varma S, McIntyre A, Hegele R
JIMD Rep
. 2016 Dec;
35:67-70.
PMID: 27933557
Familial hypercholesterolemia (FH) is an autosomal codominantly inherited disease. The severity of clinical presentation depends on the zygosity of the mutations in the LDLR, APOB, or PCSK9 genes. The homozygous...
7.
Osuch E, Manning K, Hegele R, Theberge J, Neufeld R, Mitchell D, et al.
Acta Psychiatr Scand
. 2016 Aug;
134(5):399-409.
PMID: 27565994
Objective: Marijuana (MJ) use is common. Research shows risks for psychiatric illnesses, including major depressive disorder (MDD) and cognitive deficits with MJ use, particularly early-onset use. We investigated cognitive function,...
8.
Stefanutti C, Blom D, Averna M, Meagher E, Theron H, Marais A, et al.
Atherosclerosis
. 2015 Apr;
240(2):408-14.
PMID: 25897792
Objective: Lomitapide (a microsomal triglyceride transfer protein inhibitor) is an adjunctive treatment for homozygous familial hypercholesterolaemia (HoFH), a rare genetic condition characterised by elevated low-density lipoprotein-cholesterol (LDL-C), and premature, severe,...
9.
Dyment D, Gibson W, Huang L, Bassyouni H, Hegele R, Innes A
Eur J Med Genet
. 2014 Jul;
57(9):524-6.
PMID: 24980513
We present an individual with a generalized and infantile onset lipodystrophy who later developed hypertriglyceridemia, pancreatitis, refractory diabetes, irregular menses and renal failure. She showed the hallmark features of a...
10.
Gryn S, Hegele R
Clin Pharmacol Ther
. 2014 Apr;
96(1):36-47.
PMID: 24722394
Statins form the backbone of lipid-lowering therapy in the prevention of cardiovascular disease. Numerous studies have evaluated the effect of genomics on the clinical efficacy and adverse effects of statins....