Detalhe da pesquisa
1.
Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
J Inherit Metab Dis
; 42(1): 147-158, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30740741
2.
Healthcare transition in pediatric liver transplantation: The perspectives of pediatric and adult healthcare professionals.
Pediatr Transplant
; 23(6): e13530, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31240785
3.
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
4.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Ann Neurol
; 82(6): 1004-1015, 2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29205472
5.
The Experiences of Young Liver Patients Transferring From Children's to Adult Services and Their Support Needs for a Successful Transition.
Prog Transplant
; 28(3): 244-249, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29898638
6.
Liver Failure in Early Infancy: Aetiology, Presentation, and Outcome.
J Pediatr Gastroenterol Nutr
; 64(1): 70-75, 2017 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27007398
7.
Using Mobile Phone Technology to Support Young Liver Transplant Recipients Moving to Adult Services.
Prog Transplant
; 27(2): 207-218, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28617171
8.
Liver disease in infancy caused by oxysterol 7 α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid.
J Inherit Metab Dis
; 37(5): 851-61, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24658845
9.
Mutations in VPS33B, encoding a regulator of SNARE-dependent membrane fusion, cause arthrogryposis-renal dysfunction-cholestasis (ARC) syndrome.
Nat Genet
; 36(4): 400-4, 2004 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-15052268
10.
Bile acid-CoA ligase deficiency--a new inborn error of bile acid metabolism.
J Inherit Metab Dis
; 35(3): 521-30, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22089923
11.
Liver Failure in Early Infancy.
J Pediatr Gastroenterol Nutr
; 65(1): e23, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28556787
12.
Differences in presentation and progression between severe FIC1 and BSEP deficiencies.
J Hepatol
; 53(1): 170-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20447715
13.
Severe bile salt export pump deficiency: 82 different ABCB11 mutations in 109 families.
Gastroenterology
; 134(4): 1203-14, 2008 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-18395098
14.
Renal function evaluated by measured GFR during follow-up in pediatric liver transplant recipients.
Pediatr Transplant
; 13(1): 96-103, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18673354
15.
Randomized, double-blind, placebo-controlled trial of corticosteroids after Kasai portoenterostomy for biliary atresia.
Hepatology
; 46(6): 1821-7, 2007 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17935230
16.
Outcomes of Percutaneous Portal Vein Intervention in a Single UK Paediatric Liver Transplantation Programme.
Cardiovasc Intervent Radiol
; 41(1): 96-103, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28913651
17.
Outcomes of surgical management of familial intrahepatic cholestasis 1 and bile salt export protein deficiencies.
Hepatol Commun
; 2(5): 515-528, 2018 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-29761168
18.
Tiotropium and simplified detection of dynamic hyperinflation.
Chest
; 131(3): 690-695, 2007 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-17356081
19.
Pediatric pancreatic hemangioma: a case report and literature review.
JOP
; 7(5): 496-501, 2006 Sep 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-16998249
20.
Immediate extubation of children following liver transplantation is safe and may be beneficial.
Transplantation
; 80(7): 959-63, 2005 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-16249745