Detalhe da pesquisa
1.
Event-free survival of maralixibat-treated patients with Alagille syndrome compared to a real-world cohort from GALA.
Hepatology
; 79(6): 1279-1292, 2024 Jun 01.
Artigo
Inglês
| MEDLINE | ID: mdl-38146932
2.
The MMACHC variant c.158T>C: Mild clinical and biochemical phenotypes and marked hydroxocobalamin response in cblC patients.
Mol Genet Metab
; 142(1): 108345, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38387306
3.
Natural history of liver disease in a large international cohort of children with Alagille syndrome: Results from the GALA study.
Hepatology
; 77(2): 512-529, 2023 02 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36036223
4.
Biallelic variants in CRIPT cause a Rothmund-Thomson-like syndrome with increased cellular senescence.
Genet Med
; 25(7): 100836, 2023 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-37013901
5.
Accurate and live peroxisome biogenesis evaluation achieved by lentiviral expression of a green fluorescent protein fused to a peroxisome targeting signal 1.
Histochem Cell Biol
; 153(5): 295-306, 2020 May.
Artigo
Inglês
| MEDLINE | ID: mdl-32124009
6.
Intracranial Hypertension and Papilledema in a Large Cohort of Pediatric Patients With Alagille Syndrome.
J Pediatr Gastroenterol Nutr
; 71(5): 655-662, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-33093373
7.
Living-donor liver transplantation for mild Zellweger spectrum disorder: Up to 17 years follow-up.
Pediatr Transplant
; 22(3): e13112, 2018 05.
Artigo
Inglês
| MEDLINE | ID: mdl-29453832
8.
Insulin therapy in acute decompensation of holocarboxylase synthetase deficiency with hyperglycemia and ketoacidosis.
Mol Genet Metab Rep
; 39: 101073, 2024 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-38550975
9.
Case Report: Inactivating PTH/PTHrP Signaling Disorder Type 1 Presenting With PTH Resistance.
Front Endocrinol (Lausanne)
; 13: 928284, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35846276
10.
Sebelipase alfa enzyme replacement therapy in Wolman disease: a nationwide cohort with up to ten years of follow-up.
Orphanet J Rare Dis
; 16(1): 507, 2021 12 14.
Artigo
Inglês
| MEDLINE | ID: mdl-34906190
11.
High Dose Versus Low Dose Syngeneic Hepatocyte Transplantation in Pex1-G844D NMRI Mouse Model is Safe but Does Not Achieve Long Term Engraftment.
Cells
; 10(1)2020 12 30.
Artigo
Inglês
| MEDLINE | ID: mdl-33396635
12.
Longitudinal study of Pex1-G844D NMRI mouse model: A robust pre-clinical model for mild Zellweger spectrum disorder.
Biochim Biophys Acta Mol Basis Dis
; 1866(11): 165900, 2020 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-32693164