Detalhe da pesquisa
1.
A nine year follow-up study of patients with lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).
Scand J Clin Lab Invest
; 78(7-8): 566-574, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30755100
2.
Familial occurrence of neonatal diabetes with duplications in chromosome 6q24: treatment with sulfonylurea and 40-yr follow-up.
Pediatr Diabetes
; 13(2): 155-62, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-21518169
3.
Hereditary lymphedema, characteristics, and variations in 17 adult patients with lymphedema cholestasis syndrome 1/Aagenaes syndrome.
Lymphat Res Biol
; 12(4): 251-7, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25317502
4.
Advanced hepatocellular carcinoma in adolescence associated with congenital cholestasis: a case description.
Case Rep Oncol
; 6(1): 98-103, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23626552
5.
CCBE1 mutation in two siblings, one manifesting lymphedema-cholestasis syndrome, and the other, fetal hydrops.
PLoS One
; 8(9): e75770, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-24086631
6.
Do patients with lymphoedema cholestasis syndrome 1/Aagenaes syndrome need dietary counselling outside cholestatic episodes?
Clin Nutr
; 29(4): 525-30, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20170991
7.
Prognosis, with evaluation of general biochemistry, of liver disease in lymphoedema cholestasis syndrome 1 (LCS1/Aagenaes syndrome).
Scand J Gastroenterol
; 41(4): 465-71, 2006 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-16635916
8.
Evidence for genetic heterogeneity in lymphedema-cholestasis syndrome.
J Pediatr
; 142(4): 441-7, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12712065