• A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome)
• Aagenaes syndrome
• Aagenaes syndrome--lymphedema and intrahepatic cholestasis
• Aagenaes syndrome/lymphedema cholestasis syndrome 1 is caused by a founder variant in the 5'-untranslated region of UNC45A
• Aagenaes's syndrome in an Italian child
• Adults with 22q11.2 deletion syndrome have a different velopharyngeal anatomy with predisposition to velopharyngeal insufficiency
• Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description
• Angioid streaks in aagenaes syndrome
• CCBE1 mutation causing sclerosing cholangitis: Expanding the spectrum of lymphedema-cholestasis syndrome
• CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops
• Dental care and oral health in Aagenaes syndrome/lymphedema cholestasis syndrome 1
• Differences in bile acid profiles between cholestatic diseases - Development of a high throughput assay for dried bloodspots
• Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes?
• Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome
• Hereditary cholestasis combined with peripheral pulmonary stenosis and other anomalies
• Hereditary cholestasis with lymphoedema (Aagenaes syndrome, cholestasis-lymphoedema syndrome). New cases and follow-up from infancy to adult age
• Hereditary intrahepatic cholestasis with lymphedema--Aagenaes syndrome
• Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome
• Hereditary recurrent intrahepatic cholestasis from birth
• Intrahepatic cholestasis due to biochemical errors of bile acids. II. Clinical and therapeutic aspects
• Liver enzyme ratios in neonatal liver disease
• Mapping of the locus for cholestasis-lymphedema syndrome (Aagenaes syndrome) to a 6.6-cM interval on chromosome 15q
• MicroRNA in dried blood spots from patients with Aagenaes syndrome and evaluation of pre-analytical and analytical factors
• Mutations in KIF11 cause autosomal-dominant microcephaly variably associated with congenital lymphedema and chorioretinopathy
• Parent-child transmission of infantile cholestasis with lymphoedema (Aagenaes syndrome)
• Primordial birdheaded nanism associated with progressive ataxia, early onset insulin resistant diabetes, goiter and primary gonadal insufficiency. A new syndrome
• Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome)
• Quality of life in adults with lymphedema cholestasis syndrome 1
• Recurrent cellulitis in a case of Aagenaes syndrome
• Reye's syndrome in Norway 1977-1981
• Successful thrombolysis by prolonged low-dose alteplase in catheter-directed infusion
• Utility of ERCP in neonatal and infant cholestasis