Results 51 to 60 of about 5,794 (166)

GalNAc-Lipid nanoparticles enable non-LDLR dependent hepatic delivery of a CRISPR base editing therapy

Nature Communications, 2023
Lipid nanoparticles have demonstrated utility in hepatic delivery of a range of therapeutic modalities and typically deliver their cargo via low-density lipoprotein receptor-mediated endocytosis.
Lisa N. Kasiewicz, Souvik Biswas, Aaron Beach, Huilan Ren, Chaitali Dutta, Anne Marie Mazzola, Ellen Rohde, Alexandra Chadwick, Christopher Cheng, Sara P. Garcia, Sowmya Iyer, Yuri Matsumoto, Amit V. Khera, Kiran Musunuru, Sekar Kathiresan, Padma Malyala, Kallanthottathil G. Rajeev, Andrew M. Bellinger   +17 more
doaj   +1 more source

Thoracic Aortic Dissection in a Patient With Classical Homocystinuria: Implications for Aortic Surveillance

JIMD Reports, Volume 67, Issue 4, July 2026.
ABSTRACT Classical homocystinuria (OMIM #236300), a rare inherited metabolic disorder caused by cystathionine beta‐synthase (CBS) deficiency, is characterized by markedly elevated homocysteine levels and associated multisystem complications. While the role of homocystinuria in venous thromboembolism is well recognized, there is limited evidence of ...
Marisa Chard, Jasmin Simi Zhang, Lesley Turner   +2 more
wiley   +1 more source

Homozygous familial hypercholesterolemia

Clinical Lipidology, 2013
Evaluation of: Rocha VZ, Chacra AP, Salgado W et al. Extensive xanthomata and severe subclinical atherosclerosis in homozygous familial hypercholesterolemia. J. Am. Coll. Cardiol. 61(21), 2193 (2013).This paper evaluation summarizes a case report of homozygous familial hypercholesterolemia.
openaire   +1 more source

Liver Transplantation for Homozygous Familial Hypercholesterolemia

Journal of Atherosclerosis and Thrombosis, 2019
Pharmacological treatments to decrease low-density lipoprotein (LDL) cholesterol (LDL-C) have limited effects on patients with homozygous familial hypercholesterolemia (HoFH). Since LDL receptors are located mainly in the liver, liver transplantation is considered to be the only way to correct the hepatic cholesterol metabolism abnormalities in HoFH ...
Ishigaki, Yasushi, Kawagishi, Naoki, Hasegawa, Yutaka, Sawada, Shojiro, Katagiri, Hideki, Satomi, Susumu, Oikawa, Shinichi   +6 more
openaire   +3 more sources

Genomic and Sex Contributions to Interindividual Variability in Pitavastatin Bioavailability

Basic &Clinical Pharmacology &Toxicology, Volume 139, Issue 1, July 2026.
ABSTRACT Aim This study investigates pharmacogenetic determinants of pitavastatin disposition using a candidate‐gene approach. Methods In 48 healthy volunteers, 138 variants across 40 genes involved in drug metabolism and transport were analysed to assess their relationship with pitavastatin pharmacokinetics, alongside the influence of sex and ...
Eva González‐Iglesias, Sofía Moreno‐Pérez de Villar, Dolores Ochoa, Manuel Román, Jesús Novalbos, Samuel Martín‐Vilchez, Alejandro de Miguel, Francisco Abad‐Santos   +7 more
wiley   +1 more source

Early‐onset familial hypercholesterolemia: A case of extensive xanthomas and premature coronary artery disease

Clinical Case Reports
Key Clinical Message Early recognition and management of familial hypercholesterolemia (FH) are crucial, especially in patients with extensive xanthomas and premature coronary artery disease.
Harsimran Kalsi, Ankur Singla, Sukhjot Kaur, Amogh Verma, Nathnael Abera Woldehana, Sarvesh Rustagi, Mahendra Pratap Singh   +6 more
doaj   +1 more source

Pregnancy in a Woman with Homozygous Familial Hypercholesterolemia Not on Low-Density Lipoprotein Apheresis

American Journal of Perinatology Reports, 2012
Pregnancy in women with homozygous familial hypercholesterolemia (FH) has been rarely reported and might pose risks on the mother and her fetus. Although most reported cases remained on low-density lipoprotein (LDL) apheresis, there are no clear ...
Akl C. Fahed, Anwar H. Nassar
doaj   +1 more source

Xanthomas Regression in an 8-Year-Old Boy Treated With Lomitapide

JACC: Case Reports, 2019
This case reports on an 8-year-old boy with homozygous familial hypercholesterolemia with large tuberous xanthomas over his hands, elbows, buttocks, knees, and feet.
Genovefa Kolovou, MD, PhD, Aleksandros Tsoutsinos, MD, Irene Mastorakou, MD, MSc, PhD, Sophie Mavrogeni, MD, PhD, George Hatzigeorgiou, MD   +4 more
doaj   +1 more source

How does type 2 diabetes modify the risk of Alzheimer's disease?

Alzheimer's &Dementia, Volume 22, Issue 5, May 2026.
Abstract Type 2 diabetes (T2D) and Alzheimer's disease (AD) are both increasing exponentially worldwide. T2D has also been identified as one of 14 modifiable risk factors for dementia, but the mechanism is unknown. T2D could promote dementia via vascular or AD neuropathological changes, and mechanistic hypotheses include central insulin resistance and ...
G. T. Sutherland, A. Chen, H‐T. Nguyen‐Hao, H. Mundell, E. Aladyeva, M. J. Hofer, O. Harari, S. M. Twigg   +7 more
wiley   +1 more source

Homozygous Familial Hypercholesterolemia

JACC: Case Reports, 2022
Lisa Young, Emily E. Brown, Seth S. Martin   +2 more
openaire   +2 more sources