Detalhe da pesquisa
1.
SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN).
Genet Med
; 20(10): 1255-1265, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29419818
2.
Sequencing of FIC1, BSEP and MDR3 in a large cohort of patients with cholestasis revealed a high number of different genetic variants.
J Hepatol
; 67(6): 1253-1264, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28733223
3.
High affinity anti-BSEP antibodies after liver transplantation for PFIC-2 - Successful treatment with immunoadsorption and B-cell depletion.
Pediatr Transplant
; 20(7): 987-993, 2016 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-27368585
4.
Antibiotic prophylaxis in the management of percutaneous endoscopic gastrostomy in infants and children.
Pediatr Int
; 57(2): 295-8, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25243971
5.
Molecular Adsorbents Recirculating System dialysis in children with cholestatic pruritus.
Pediatr Nephrol
; 27(5): 829-34, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22083365
6.
Feasibility study and control values of transient elastography in healthy children.
Eur J Pediatr
; 171(2): 353-60, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21861093
7.
A new pediatric liver transplantation program in Southern Germany. The Heidelberg experience.
Pediatr Transplant
; 14(1): 12-8, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19793222
8.
Multiple upper gastrointestinal perforations in a 15-year-old patient treated with tocilizumab.
Rheumatology (Oxford)
; 53(9): 1713-4, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24625503
9.
Phenotypic spectrum and diagnostic pitfalls of ABCB4 deficiency depending on age of onset.
Hepatol Commun
; 2(5): 504-514, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29761167
10.
An Assessment of Publication Status of Pediatric Liver Transplantation Studies.
PLoS One
; 11(12): e0168251, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27992485
11.
Exon-skipping and mRNA decay in human liver tissue: molecular consequences of pathogenic bile salt export pump mutations.
Sci Rep
; 6: 24827, 2016 04 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-27114171
12.
Two Case Reports of Successful Treatment of Cholestasis With Steroids in Patients With PFIC-2.
Pediatrics
; 135(5): e1326-32, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25847799
13.
The K+ channel opener 1-EBIO potentiates residual function of mutant CFTR in rectal biopsies from cystic fibrosis patients.
PLoS One
; 6(8): e24445, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21909392