Detalhe da pesquisa
1.
Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.
Am J Hum Genet
; 102(3): 364-374, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29429573
2.
Experience of Using a Semielemental Formula for Home Enteral Nutrition in Children: A Multicenter Cross-sectional Study.
J Pediatr Gastroenterol Nutr
; 68(4): 585-590, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30896609
3.
Reduced sodium/proton exchanger NHE3 activity causes congenital sodium diarrhea.
Hum Mol Genet
; 24(23): 6614-23, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26358773
4.
Genetic characterization of congenital tufting enteropathy: epcam associated phenotype and involvement of SPINT2 in the syndromic form.
Hum Genet
; 133(3): 299-310, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24142340
5.
Microvillous atrophy: atypical presentations.
J Pediatr Gastroenterol Nutr
; 59(6): 779-85, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25111220
6.
Chronic Intestinal Failure in Children: An International Multicenter Cross-Sectional Survey.
Nutrients
; 14(9)2022 Apr 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-35565856
7.
Pediatric Home Parenteral Nutrition in France: A six years national survey.
Clin Nutr
; 40(10): 5278-5287, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34534896
8.
Combined Immunodeficiency in Patients With Trichohepatoenteric Syndrome.
Front Immunol
; 9: 1036, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-29868001
9.
Pregnancy is possible on long-term home parenteral nutrition in patients with chronic intestinal failure: Results of a long term retrospective observational study.
Clin Nutr
; 36(4): 1165-1169, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27624996
10.
Syndromic (phenotypic) diarrhoea of infancy/tricho-hepato-enteric syndrome.
Arch Dis Child
; 99(1): 35-8, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-24108068
11.
Growth hormone to improve short bowel syndrome intestinal autonomy: a pediatric randomized open-label clinical trial.
JPEN J Parenter Enteral Nutr
; 35(6): 723-31, 2011 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-21975668
12.
Lower insulin secretory response to glucose induced by artificial nutrition in children: prolonged and total parenteral nutrition.
Pediatr Res
; 62(5): 624-9, 2007 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-17805200
13.
Satisfaction in different life domains in children receiving home parenteral nutrition and their families.
J Pediatr
; 146(6): 793-7, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15973321
14.
Total energy expenditure and physical activity in children treated with home parenteral nutrition.
Pediatr Res
; 53(4): 684-90, 2003 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-12612198