Detalhe da pesquisa
1.
PGRN deficiency exacerbates, whereas a brain penetrant PGRN derivative protects, GBA1 mutation-associated pathologies and diseases.
Proc Natl Acad Sci U S A
; 120(1): e2210442120, 2023 01 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36574647
2.
Urinary sphingolipids in adolescents and young adults with youth-onset diabetes.
Pediatr Nephrol
; 39(6): 1875-1883, 2024 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-38172468
3.
Comprehensive and long-term outcomes of enzyme replacement therapy followed by stem cell transplantation in children with Gaucher disease type 1 and 3.
Pediatr Blood Cancer
; 70(3): e30149, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36562549
4.
Complement drives glucosylceramide accumulation and tissue inflammation in Gaucher disease.
Nature
; 543(7643): 108-112, 2017 03 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28225753
5.
Successful treatment of infantile oxysterol 7α-hydroxylase deficiency with oral chenodeoxycholic acid.
BMC Gastroenterol
; 21(1): 163, 2021 Apr 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-33849447
6.
Assessment of the role of FGF15 in mediating the metabolic outcomes of murine Vertical Sleeve Gastrectomy (VSG).
Am J Physiol Gastrointest Liver Physiol
; 2020 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-32967428
7.
Modulating ryanodine receptors with dantrolene attenuates neuronopathic phenotype in Gaucher disease mice.
Hum Mol Genet
; 25(23): 5126-5141, 2016 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27655403
8.
Neuronopathic Gaucher disease: dysregulated mRNAs and miRNAs in brain pathogenesis and effects of pharmacologic chaperone treatment in a mouse model.
Hum Mol Genet
; 24(24): 7031-48, 2015 Dec 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26420838
9.
Pharmacological inhibition of apical sodium-dependent bile acid transporter changes bile composition and blocks progression of sclerosing cholangitis in multidrug resistance 2 knockout mice.
Hepatology
; 63(2): 512-23, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26172874
10.
Hepatic MDR3 expression impacts lipid homeostasis and susceptibility to inflammatory bile duct obstruction in neonates.
Pediatr Res
; 82(1): 122-132, 2017 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-28355206
11.
A convenient approach to facilitate monitoring Gaucher disease progression and therapeutic response.
Analyst
; 142(18): 3380-3387, 2017 Sep 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28812093
12.
Severe Neonatal Cholestasis in Cerebrotendinous Xanthomatosis: Genetics, Immunostaining, Mass Spectrometry.
J Pediatr Gastroenterol Nutr
; 65(5): 561-568, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28937538
13.
Spiral ganglion degeneration and hearing loss as a consequence of satellite cell death in saposin B-deficient mice.
J Neurosci
; 35(7): 3263-75, 2015 Feb 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-25698761
14.
Multiple pathogenic proteins implicated in neuronopathic Gaucher disease mice.
Hum Mol Genet
; 23(15): 3943-57, 2014 Aug 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24599400
15.
Long-Term Ursodeoxycholic Acid Therapy Does Not Alter Lithocholic Acid Levels in Patients with Cystic Fibrosis with Associated Liver Disease.
J Pediatr
; 177: 59-65.e1, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27297203
16.
Treatment of bile acid amidation defects with glycocholic acid.
Hepatology
; 61(1): 268-74, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25163551
17.
Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.
Hum Mol Genet
; 22(12): 2435-50, 2013 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23446636
18.
Tandem mass spectrometric determination of atypical 3ß-hydroxy-Δ5-bile acids in patients with 3ß-hydroxy-Δ5-C27-steroid oxidoreductase deficiency: application to diagnosis and monitoring of bile acid therapeutic response.
Clin Chem
; 61(7): 955-63, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25931455
19.
CNS, lung, and lymph node involvement in Gaucher disease type 3 after 11 years of therapy: clinical, histopathologic, and biochemical findings.
Mol Genet Metab
; 114(2): 233-241, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25219293
20.
Bile Acid Signaling: Mechanism for Bariatric Surgery, Cure for NASH?
Dig Dis
; 33(3): 440-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26045281