ALLMedicine™ Aagenaes Syndrome Center
Research & Reviews 4 results
https://doi.org/10.1038/s41390-020-01153-3
Pediatric Research; Atneosen-Åsegg M, Melheim M et. al.
Sep 16th, 2020 - Circulatory miRNAs are promising biomarkers. The feasibility of using miRNA from dried blood spots (DBS) was investigated using newborn screening cards from patients with cholestasis-lymphedema syndrome (Aagenaes syndrome) and controls. Total amou...
https://doi.org/10.1111/scd.12080
Special Care in Dentistry : Official Publication of the A... Bågesund M, Shafiee Z et. al.
Jul 22nd, 2014 - Aagenaes syndrome/lymphedema cholestasis syndrome 1 (LCS1) is a rare genetic disorder characterized by neonatal cholestasis and lymphedema. The aim was to assess dental care and oral health in adults with LCS1. Fifteen (9M, 6F) individuals diagnos...
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3784396
PloS One; Shah S, Conlin LK et. al.
Oct 3rd, 2013 - Lymphedema-cholestasis syndrome (LCS; Aagenaes syndrome) is a rare autosomal recessive disorder, characterized by 1) neonatal intrahepatic cholestasis, often lessening and becoming intermittent with age, and 2) severe chronic lymphedema, mainly lo...
https://rarediseases.info.nih.gov/diseases/370/aagenaes-syndrome
Sep 13th, 2012 - Aagenaes syndrome, or lymphedema cholestasis syndrome (LSC1), is a form of idiopathic familial intrahepatic cholestasis associated with lymphedema of the lower extremities.[1][2] At least some cases of Aagenaes syndrome have been attributed to mut...
