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Last Updated: 04/25/2025
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Found 597 publications
Recognition and management of persistent chylomicronemia: A joint expert clinical consensus by the National Lipid Association and the American Society for Preventive Cardiology.
Journal: American journal of preventive cardiology
Published: April 17, 2025
Olezarsen for the Treatment of Familial Chylomicronemia Syndrome.
Journal: The Annals of pharmacotherapy
Published: April 15, 2025
Familial chylomicronemia syndrome: An expert clinical review from the National Lipid Association.
Journal: Journal of clinical lipidology
Published: March 18, 2025
A Drosophila model for Costello Syndrome caused by Ras mutation K117R.
Journal: bioRxiv : the preprint server for biology
Published: February 20, 2025
Antenatal diagnosis of lethal Costello syndrome: how fetal exome sequencing using NHS England's R21 pathway accelerated the diagnosis of non-immune hydrops and improved patient experience.
Journal: BMJ case reports
Published: February 14, 2025
Genomic ascertainment to quantify prevalence and cancer risk in adults with pathogenic and likely pathogenic germline variants in RASopathy genes.
Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025
Germline Variants in Pediatric Cancer : Based on Oncogenic Pathways.
Journal: Journal of Korean Neurosurgical Society
Published: January 09, 2025
Novel use of trametinib for treatment of atrial arrhythmia in absence of cardiomyopathy in a patient with Costello syndrome.
Journal: Cardiology in the young
Published: January 06, 2025
Current and Emerging Treatment Options for Hypertriglyceridemia: State-of-the-Art Review.
Journal: Pharmaceuticals (Basel, Switzerland)
Published: December 26, 2024
Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.
Journal: Journal of the Endocrine Society
Published: December 13, 2024
Costello Syndrome Complicated by Midventricular Obstruction With an Apical Aneurysm.
Journal: Circulation reports
Published: December 09, 2024
Last Updated: 04/25/2025