Detalhe da pesquisa
1.
Broadly effective metabolic and immune recovery with C5 inhibition in CHAPLE disease.
Nat Immunol
; 22(2): 128-139, 2021 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-33398182
2.
Direct Measurement of ATP7B Peptides Is Highly Effective in the Diagnosis of Wilson Disease.
Gastroenterology
; 160(7): 2367-2382.e1, 2021 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33640437
3.
Assessment of human leukocyte antigen matching algorithm PIRCHE-II on liver transplantation outcomes.
Liver Transpl
; 28(8): 1356-1366, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35152544
4.
GLS hyperactivity causes glutamate excess, infantile cataract and profound developmental delay.
Hum Mol Genet
; 28(1): 96-104, 2019 01 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30239721
5.
Influence of allopurinol on thiopurine associated toxicity: A retrospective population-based cohort study.
Br J Clin Pharmacol
; 87(5): 2333-2340, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33118191
6.
CD55 Deficiency, Early-Onset Protein-Losing Enteropathy, and Thrombosis.
N Engl J Med
; 377(1): 52-61, 2017 07 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28657829
7.
Potential of ileal bile acid transporter inhibition as a therapeutic target in Alagille syndrome and progressive familial intrahepatic cholestasis.
Liver Int
; 40(8): 1812-1822, 2020 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492754
8.
Inborn errors of enzymes in glutamate metabolism.
J Inherit Metab Dis
; 43(2): 200-215, 2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31603991
9.
DGAT2 partially compensates for lipid-induced ER stress in human DGAT1-deficient intestinal stem cells.
J Lipid Res
; 60(10): 1787-1800, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31315900
10.
Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency.
Gastroenterology
; 155(1): 130-143.e15, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29604290
11.
Aminoacyl-tRNA synthetase deficiencies in search of common themes.
Genet Med
; 21(2): 319-330, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29875423
12.
Comparative effectiveness of common therapies for Wilson disease: A systematic review and meta-analysis of controlled studies.
Liver Int
; 39(11): 2136-2152, 2019 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-31206982
13.
Disease progression in paediatric- and adult-onset sclerosing cholangitis: Results from two independent Dutch registries.
Liver Int
; 39(9): 1768-1775, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31152478
14.
Vitamin D intake, serum 25-hydroxy vitamin D and pulmonary function in paediatric patients with cystic fibrosis: a longitudinal approach.
Br J Nutr
; 121(2): 195-201, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30442206
15.
Impact of Paediatric Versus Adult Care Setting on Health Care Utilization in Adolescents With Inflammatory Bowel Disease.
J Pediatr Gastroenterol Nutr
; 69(3): 310-316, 2019 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-31124888
16.
Ankyrin repeat and zinc-finger domain-containing 1 mutations are associated with infantile-onset inflammatory bowel disease.
J Biol Chem
; 292(19): 7904-7920, 2017 05 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-28302725
17.
Stratifying infants with cystic fibrosis for disease severity using intestinal organoid swelling as a biomarker of CFTR function.
Eur Respir J
; 52(3)2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30166324
18.
Monocarboxylate transporter 1 deficiency and ketone utilization.
N Engl J Med
; 371(20): 1900-7, 2014 Nov 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25390740
19.
Effects of new and emerging therapies on gastrointestinal outcomes in cystic fibrosis.
Curr Opin Pulm Med
; 23(6): 551-555, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28787381
20.
Less Anti-infliximab Antibody Formation in Paediatric Crohn Patients on Concomitant Immunomodulators.
J Pediatr Gastroenterol Nutr
; 65(4): 425-429, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28945207