Detalhe da pesquisa
1.
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
J Inherit Metab Dis
; 46(2): 300-312, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36651831
2.
The Epidemiology of Biliary Atresia: Exploring the Role of Developmental Factors on Birth Prevalence.
J Pediatr
; 246: 89-94.e2, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35364097
3.
It takes a village: primary care of the pediatric liver transplant recipient.
Curr Opin Pediatr
; 31(5): 636-644, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31369476
4.
Correlation of Transient Elastography With Severity of Cystic Fibrosis-related Liver Disease.
J Pediatr Gastroenterol Nutr
; 64(4): 505-511, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-27782957
5.
Homozygous NEK8 Mutations in Siblings With Neonatal Cholestasis Progressing to End-stage Liver, Renal, and Cardiac Disease.
J Pediatr Gastroenterol Nutr
; 70(1): e19-e22, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31633649
6.
Hepatic entrapment of esterified cholesterol drives continual expansion of whole body sterol pool in lysosomal acid lipase-deficient mice.
Am J Physiol Gastrointest Liver Physiol
; 307(8): G836-47, 2014 Oct 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25147230
7.
Management of Select Adverse Events Following Delandistrogene Moxeparvovec Gene Therapy for Patients With Duchenne Muscular Dystrophy.
J Neuromuscul Dis
; 11(3): 687-699, 2024.
Artigo
em Inglês
| MEDLINE | ID: mdl-38607761
8.
Maralixibat in progressive familial intrahepatic cholestasis (MARCH-PFIC): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Lancet Gastroenterol Hepatol
; 9(7): 620-631, 2024 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-38723644
9.
Unesterified cholesterol accumulation in late endosomes/lysosomes causes neurodegeneration and is prevented by driving cholesterol export from this compartment.
J Neurosci
; 31(25): 9404-13, 2011 Jun 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-21697390
10.
Molecular markers of brain cholesterol homeostasis are unchanged despite a smaller brain mass in a mouse model of cholesteryl ester storage disease.
Lipids
; 57(1): 3-16, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34618372
11.
Quantitative role of LAL, NPC2, and NPC1 in lysosomal cholesterol processing defined by genetic and pharmacological manipulations.
J Lipid Res
; 52(4): 688-98, 2011 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-21289032
12.
COVID-19 in a Pediatric Patient: Novel Presentation of Cardiac Failure resulting in Chylous Ascites and Abdominal Pain.
JPGN Rep
; 2(2): e068, 2021 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-34192293