Detalhe da pesquisa
1.
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
2.
Outcomes of screening for gammopathies in children and adults with Gaucher disease type 1 in a cohort from Brazil and the United States.
Am J Med Genet C Semin Med Genet
; 184(4): 1052-1059, 2020 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-33277783
3.
KCTD7 deficiency defines a distinct neurodegenerative disorder with a conserved autophagy-lysosome defect.
Ann Neurol
; 84(5): 766-780, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30295347
4.
Eliglustat maintains long-term clinical stability in patients with Gaucher disease type 1 stabilized on enzyme therapy.
Blood
; 129(17): 2375-2383, 2017 04 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-28167660
5.
Transformation in pretreatment manifestations of Gaucher disease type 1 during two decades of alglucerase/imiglucerase enzyme replacement therapy in the International Collaborative Gaucher Group (ICGG) Gaucher Registry.
Am J Hematol
; 92(9): 929-939, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28569047
6.
Defects of B-cell terminal differentiation in patients with type-1 Kabuki syndrome.
J Allergy Clin Immunol
; 137(1): 179-187.e10, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26194542
7.
Eliglustat compared with imiglucerase in patients with Gaucher's disease type 1 stabilised on enzyme replacement therapy: a phase 3, randomised, open-label, non-inferiority trial.
Lancet
; 385(9985): 2355-62, 2015 Jun 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-25819691
8.
Recommendations for the use of eliglustat in the treatment of adults with Gaucher disease type 1 in the United States.
Mol Genet Metab
; 117(2): 95-103, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387627
9.
Clinical delineation of the PACS1-related syndrome--Report on 19 patients.
Am J Med Genet A
; 170(3): 670-5, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26842493
10.
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
11.
Mitochondrial Ultrastructural Defects in NDUFS3-Related Disorder.
J Pediatr Neurosci
; 16(4): 299-302, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-36531773
12.
Case Report: Cerebral Revascularization in a Child With Mucopolysaccharidosis Type I.
Front Pediatr
; 9: 606905, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34178879
13.
Glycogen storage disease type IV: novel mutations and molecular characterization of a heterogeneous disorder.
J Inherit Metab Dis
; 33 Suppl 3: S83-90, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-20058079
14.
Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.
Pediatr Neurol
; 96: 37-39, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30898416
15.
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Ann Clin Transl Neurol
; 2(6): 623-35, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-26125038
16.
Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
Front Pediatr
; 3: 67, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26284228
17.
Velaglucerase alfa in the treatment of Gaucher disease type 1.
Clin Investig (Lond)
; 1(2): 285-293, 2011 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-21927713
18.
Encephalopathy in a patient with short bowel syndrome: case report and discussion of the pathophysiology.
JPEN J Parenter Enteral Nutr
; 38(4): 518-20, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23894171