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ALLMedicine™ Aagenaes Syndrome Center

Research & Reviews  4 results

MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pr...
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...

Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1.
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...

CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and th...
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...

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...

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