Detalhe da pesquisa
1.
Neuroimaging findings in infantile Pompe patients treated with enzyme replacement therapy.
Mol Genet Metab
; 123(2): 85-91, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29050825
2.
Bortezomib in the rapid reduction of high sustained antibody titers in disorders treated with therapeutic protein: lessons learned from Pompe disease.
Genet Med
; 15(2): 123-31, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23060045
3.
The emerging phenotype of long-term survivors with infantile Pompe disease.
Genet Med
; 14(9): 800-10, 2012 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-22538254
4.
The impact of antibodies in late-onset Pompe disease: a case series and literature review.
Mol Genet Metab
; 106(3): 301-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22613277
5.
Persistence of high sustained antibodies to enzyme replacement therapy despite extensive immunomodulatory therapy in an infant with Pompe disease: need for agents to target antibody-secreting plasma cells.
Mol Genet Metab
; 105(4): 677-80, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22365055
6.
The impact of antibodies on clinical outcomes in diseases treated with therapeutic protein: lessons learned from infantile Pompe disease.
Genet Med
; 13(8): 729-36, 2011 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-21637107
7.
Atypical immunologic response in a patient with CRIM-negative Pompe disease.
Mol Genet Metab
; 104(4): 583-6, 2011 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-21889385
8.
Enhanced efficacy of enzyme replacement therapy in Pompe disease through mannose-6-phosphate receptor expression in skeletal muscle.
Mol Genet Metab
; 103(2): 107-12, 2011 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-21397538
9.
Hypovitaminosis D in glycogen storage disease type I.
Mol Genet Metab
; 99(4): 434-7, 2010 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-20060350
10.
Oropharyngeal dysphagia in infants and children with infantile Pompe disease.
Dysphagia
; 25(4): 277-83, 2010 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-19763689
11.
Clinical and histologic ocular findings in pompe disease.
J Pediatr Ophthalmol Strabismus
; 47(1): 34-40, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20128552
12.
Letter to the Editors: Concerning "CRIM-negative Pompe disease patients with satisfactory clinical outcomes on enzyme replacement therapy" by Al Khallaf et al.
J Inherit Metab Dis
; 37(1): 141-3, 2014 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23887636
13.
Basilar artery aneurysm: a new finding in classic infantile Pompe disease.
Muscle Nerve
; 47(4): 613-5, 2013 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-23401069
14.
Improvement of bilateral ptosis on higher dose enzyme replacement therapy in Pompe disease.
J Neuroophthalmol
; 30(2): 165-6, 2010 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-20404746
15.
Non-depleting anti-CD4 monoclonal antibody induces immune tolerance to ERT in a murine model of Pompe disease.
Mol Genet Metab Rep
; 1: 446-450, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-27896120
16.
Skeletal muscle pathology of infantile Pompe disease during long-term enzyme replacement therapy.
Orphanet J Rare Dis
; 8: 90, 2013 Jun 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23787031
17.
Algorithm for the early diagnosis and treatment of patients with cross reactive immunologic material-negative classic infantile pompe disease: a step towards improving the efficacy of ERT.
PLoS One
; 8(6): e67052, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23825616
18.
Immune modulation in Pompe disease treated with enzyme replacement therapy.
Expert Rev Clin Immunol
; 8(6): 497-9, 2012 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-22992140