Results 81 to 90 of about 13,156 (213)
Recommendations for the detection and diagnosis of Niemann-Pick disease type C: An update. [PDF]
, 2017 PURPOSE OF REVIEW: Niemann-Pick disease type C (NP-C) is a neurovisceral disorder that may be more prevalent than earlier estimates. Diagnosis of NP-C is often delayed; a key aim for clinical practice is to reduce this delay.
Anheim, M +17 more
core +3 more sources
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Clues to NPC1-mediated cholesterol export from lysosomes [PDF]
Proceedings of the National Academy of Sciences, 2016 Cholesterol is an essential component of cellular membranes and an important precursor for the generation of other biomolecules. Cholesterol is carried in the plasma in esterified form by low-density lipoprotein particles. Low-density lipoprotein is recognized by cell surface receptors that internalize the particles and deliver them to the lysosome ...
openaire +2 more sources
Precision medicine in cats:novel niemann-pick type C1 diagnosed by whole-genome sequencing [PDF]
, 2017 State-of-the-art health care includes genome sequencing of the patient to identify genetic variants that contribute to either the cause of their malady or variants that can be targeted to improve treatment.
1 +39 more
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Lipids in Health and Disease, 2019 Background Niemann-Pick disease type C1 (NPC1) is an autosomal-recessive lipid-storage disorder with an estimated minimal incidence of 1/120,000 live births. Besides other neuronal and visceral symptoms, NPC1 patients develop spleen dysfunction, isolated
Anna-Maria Neßlauer +11 more
doaj +1 more source
Ferromagnetism and phase separation in one-dimensional d-p and periodic Anderson models
, 2000 Using the Density Matrix Renormalization Group, we study metallic ferromagnetism in a one-dimensional copper-oxide model which contains one oxygen p-orbital and one copper d-orbital. The parameters for the d-p model can be chosen so that it is similar to
A. Keren +36 more
core +1 more source
Bidirectional links between Alzheimer's disease and Niemann-Pick type C disease [PDF]
, 2014 Alzheimer's disease (AD) and Niemann-Pick type C (NPC) disease are progressive neurodegenerative diseases with very different epidemiology and etiology.
Hećimović, Silva +3 more
core +1 more source
Cancer Nexus, Volume 2, Issue 2, April 2026.ABSTRACT Lipid nanoparticles (LNPs) represent the most clinically advanced platform for RNA delivery and have enabled major breakthroughs in vaccines and gene therapies. However, their broader application is still limited by inefficient extrahepatic delivery, immunogenicity, and insufficient control over tissue‐ and cell‐specific targeting. This review
Yu Han +5 more
wiley +1 more source
Triazoles inhibit cholesterol export from lysosomes by binding to NPC1 [PDF]
Proceedings of the National Academy of Sciences, 2016 SignificanceIn animal cells, cholesterol is essential for the assembly of membranes and production of steroid hormones and bile acids. Cells obtain cholesterol through receptor-mediated endocytosis of LDL into lysosomes. After lysosomal degradation, LDL-derived cholesterol must cross the lysosomal membrane to execute its functions.
Michael N, Trinh +7 more
openaire +2 more sources