Detalhe da pesquisa
1.
Clinical and Molecular Disease Spectrum and Outcomes in Patients with Infantile-Onset Pompe Disease.
J Pediatr
; 216: 44-50.e5, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31606152
2.
An immune tolerance approach using transient low-dose methotrexate in the ERT-naïve setting of patients treated with a therapeutic protein: experience in infantile-onset Pompe disease.
Genet Med
; 21(4): 887-895, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30214072
3.
Enzyme replacement therapy with alglucosidase alfa in Pompe disease: Clinical experience with rate escalation.
Mol Genet Metab
; 123(2): 92-96, 2018 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-29289479
4.
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
5.
High dose IVIG successfully reduces high rhGAA IgG antibody titers in a CRIM-negative infantile Pompe disease patient.
Mol Genet Metab
; 122(1-2): 76-79, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28648664
6.
The emerging phenotype of late-onset Pompe disease: A systematic literature review.
Mol Genet Metab
; 120(3): 163-172, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28185884
7.
Insight into the phenotype of infants with Pompe disease identified by newborn screening with the common c.-32-13T>G "late-onset" GAA variant.
Mol Genet Metab
; 122(3): 99-107, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28951071
8.
Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease.
Mol Genet Metab
; 122(4): 189-197, 2017 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29122469
9.
Immune response to enzyme replacement therapies in lysosomal storage diseases and the role of immune tolerance induction.
Mol Genet Metab
; 117(2): 66-83, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26597321
10.
CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(11): 912-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25741864
11.
Longitudinal polysomnographic findings in infantile Pompe disease.
Am J Med Genet A
; 167A(4): 858-61, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25706820
12.
Response to de Vries et al.
Genet Med
; 19(11): 1281-1282, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28492534
13.
CORRIGENDUM: CRIM-negative infantile Pompe disease: characterization of immune responses in patients treated with ERT monotherapy.
Genet Med
; 17(7): 596, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26133565
14.
Characterization of immune response in Cross-Reactive Immunological Material (CRIM)-positive infantile Pompe disease patients treated with enzyme replacement therapy.
Mol Genet Metab Rep
; 20: 100475, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-31193175
15.
Sustained immune tolerance induction in enzyme replacement therapy-treated CRIM-negative patients with infantile Pompe disease.
JCI Insight
; 2(16)2017 Aug 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-28814660
16.
Durable and sustained immune tolerance to ERT in Pompe disease with entrenched immune responses.
JCI Insight
; 1(11)2016 Jul 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-27493997
17.
Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.
Mol Genet Metab Rep
; 4: 30-34, 2015 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26167453
18.
Clinical Laboratory Experience of Blood CRIM Testing in Infantile Pompe Disease.
Mol Genet Metab Rep
; 5: 76-79, 2015 Dec 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26693141
19.
Immunological Factors in Pompe Disease Management: Clinical Experience and Implications for Newborn Screening.
J Neuromuscul Dis
; 2(s1): S7, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-27858605