Detalhe da pesquisa
1.
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
2.
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
3.
Low anal sphincter tone in infantile-onset Pompe Disease: an emerging clinical issue in enzyme replacement therapy patients requiring special attention.
Mol Genet Metab
; 108(2): 142-4, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23266370
4.
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
5.
Ectopic Ocular Surface Calcification in Patients With Hypophosphatasia Treated With Asfotase Alfa.
Cornea
; 38(7): 896-900, 2019 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-30969260
6.
Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study.
Mol Genet Metab
; 95(4): 233-5, 2008 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-18930676
7.
Corticobasal syndrome in a man with Gaucher disease type 1: Expansion of the understanding of the neurological spectrum.
Mol Genet Metab Rep
; 17: 69-72, 2018 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-30364808
8.
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
9.
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
10.
Cardiac arrhythmias following anesthesia induction in infantile-onset Pompe disease: a case series.
Paediatr Anaesth
; 17(8): 738-48, 2007 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-17596219