Results 141 to 150 of about 5,794 (166)

Evinacumab for Homozygous Familial Hypercholesterolemia

New England Journal of Medicine, 2021
Frederick J, Raal, Daniel, Gaudet, Viktoria, Gusarova   +2 more
openaire   +5 more sources

Homozygous familial hypercholesterolemia.

The Malaysian journal of pathology, 2014
We report a rare case of homozygous familial hypercholesterolemia (HoFH), a 22-year-old Malay woman who presented initially with minor soft tissue injury due to a cycling accident. She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L).
M K, Alicezah, R, Razali, T, Rahman, B P, Hoh, N H, Suhana, S, Muid, H M, Nawawi, M, Koshy   +7 more
openaire   +1 more source

Homozygous Familial Hypercholesterolemia

New England Journal of Medicine, 1975
Patients with homozygous familial hypercholesterolemia fall into two groups: one responds to diet and drug therapy; the other does not. Fibroblasts from patients in each group were compared for low-density lipoprotein suppression of 3-hydroxy-3-methylglutaryl coenzyme A reductase activity and low-density lipoprotein binding.
J L, Breslow, D R, Spaulding, S E, Lux, R I, Levy, R S, Lees   +4 more
openaire   +2 more sources

Nephrocalcinosis in Homozygous Familial Hypercholesterolemia

Journal of Computer Assisted Tomography, 1991
An association between homozygous familial hypercholesterolemia (FH) and nephrocalcinosis has not, to our knowledge, been previously reported. Evaluation in 10 cases of homozygous FH revealed evidence of nephrocalcinosis in 7 cases. Fine, uniform calcifications in the renal papillae were demonstrated by renal ultrasound or CT.
S C, Hill, J M, Hoeg, N A, Avila
openaire   +2 more sources

A case of presumed homozygous familial hypercholesterolemia

Journal of Clinical Lipidology
We present a case of a young adult diagnosed with homozygous familial hypercholesterolemia despite a normal lipid panel (Table 1). A deeper dive into the details of the genotype resulted in recharacterization of the genetic diagnosis. The observed phenotype-genotype discordance reflects the importance of a team-based approach to guide patients and ...
Dimitri Speron, Daniel E. Soffer, Neil J. Stone, Lisa Wilsbacher   +3 more
openaire   +2 more sources

Homozygous Familial Hypercholesterolemia

Journal of Pediatric Endocrinology and Metabolism, 2009
Suhil A, Choh, Naseer A, Choh, Akhter, Rasool, Roomi, Yousuf, Umar, Qureshi   +4 more
openaire   +2 more sources

Management of Homozygous Familial Hypercholesterolemia

2020
Homozygous familial hypercholesterolemia (HoFH) is a devastating codominant autosomal disease mostly caused by loss off function variants affecting the LDL receptor gene (LDLR) and is characterized by extremely elevated plasma LDL-cholesterol (LDL-C), diffuse cutaneous and tendinous xanthomas, corneal arcus, and early diffuse atherosclerotic ...
openaire   +1 more source

Very High Cholesterol Mimicking Homozygous Familial Hypercholesterolemia

Circulation, 2022
D Kalra, Mounica Vorla
exaly  

Contemporary Homozygous Familial Hypercholesterolemia in the United States: Insights From the CASCADE FH Registry

Journal of the American Heart Association, 2023
Marina Cuchel, John Kane, Mafalda Bourbon   +2 more
exaly  

Will evinacumab become the standard treatment for homozygous familial hypercholesterolemia?

Expert Opinion on Biological Therapy, 2021

exaly