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Last Updated: 10/31/2025
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Found 21 publications
A New Unc45a 5'utr Variant In Patients With Aagenaes Syndrome.
Journal: American journal of medical genetics. Part A
Published: October 12, 2024
Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 02, 2024
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).
Journal: Scandinavian journal of clinical and laboratory investigation
Published: February 14, 2019
CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome.
Journal: Hepatology (Baltimore, Md.)
Published: September 08, 2016
Quality of life in adults with lymphedema cholestasis syndrome 1.
Journal: Health and quality of life outcomes
Published: July 14, 2016
Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome.
Journal: Lymphatic research and biology
Published: October 16, 2014
Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1.
Journal: Special care in dentistry : official publication of the American Association of Hospital Dentists, the Academy of Dentistry for the Handicapped, and the American Society for Geriatric Dentistry
Published: July 22, 2014
Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description.
Journal: Case reports in oncology
Published: April 30, 2013
Last Updated: 10/31/2025