Detalhe da pesquisa
1.
Establishing how much improvement in lung function and distance walked is clinically important for adult patients with Pompe disease.
Eur J Neurol
; 31(5): e16223, 2024 May.
Artigo
Inglês
| MEDLINE | ID: mdl-38375606
2.
Association between changes in pulmonary function and in patient reported outcomes during enzyme therapy of adult patients with late-onset Pompe disease.
J Inherit Metab Dis
; 46(4): 595-604, 2023 07.
Artigo
Inglês
| MEDLINE | ID: mdl-36966448
3.
Lysosomal glycogen accumulation in Pompe disease results in disturbed cytoplasmic glycogen metabolism.
J Inherit Metab Dis
; 46(1): 101-115, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36111639
4.
MRI changes in diaphragmatic motion and curvature in Pompe disease over time.
Eur Radiol
; 32(12): 8681-8691, 2022 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-35829785
5.
Is the brain involved in patients with late-onset Pompe disease?
J Inherit Metab Dis
; 45(3): 493-501, 2022 05.
Artigo
Inglês
| MEDLINE | ID: mdl-34927739
6.
Effects of higher and more frequent dosing of alglucosidase alfa and immunomodulation on long-term clinical outcome of classic infantile Pompe patients.
J Inherit Metab Dis
; 43(6): 1243-1253, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32506446
7.
Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.
Hum Mutat
; 40(11): 1954-1967, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31254424
8.
Long-term follow-up of 17 patients with childhood Pompe disease treated with enzyme replacement therapy.
J Inherit Metab Dis
; 41(6): 1205-1214, 2018 11.
Artigo
Inglês
| MEDLINE | ID: mdl-29556838
9.
Classic infantile Pompe patients approaching adulthood: a cohort study on consequences for the brain.
Dev Med Child Neurol
; 60(6): 579-586, 2018 06.
Artigo
Inglês
| MEDLINE | ID: mdl-29573408
10.
Pompe disease in adulthood: effects of antibody formation on enzyme replacement therapy.
Genet Med
; 19(1): 90-97, 2017 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27362911
11.
The impact of COVID-19 infection, the pandemic and its associated control measures on patients with Pompe disease.
J Neurol
; 271(1): 32-45, 2024 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-37982853
12.
Diffusion tensor imaging of the brain in Pompe disease.
J Neurol
; 270(3): 1662-1671, 2023 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-36480052
13.
Home-based enzyme replacement therapy in children and adults with Pompe disease; a prospective study.
Orphanet J Rare Dis
; 18(1): 108, 2023 05 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37158969
14.
Measurement Properties of 2 Novel PROs, the Pompe Disease Symptom Scale and Pompe Disease Impact Scale, in the COMET Study.
Neurol Clin Pract
; 13(5): e200181, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37559825
15.
Are Anti-rhGAA Antibodies a Determinant of Treatment Outcome in Adults with Late-Onset Pompe Disease? A Systematic Review.
Biomolecules
; 13(9)2023 09 19.
Artigo
Inglês
| MEDLINE | ID: mdl-37759814
16.
Long-term benefits of physical activity in adult patients with late onset Pompe disease: a retrospective cohort study with 10 years of follow-up.
Orphanet J Rare Dis
; 18(1): 319, 2023 10 11.
Artigo
Inglês
| MEDLINE | ID: mdl-37821981
17.
Neurofilament Light and Its Association With CNS Involvement in Patients With Classic Infantile Pompe Disease.
Neurology
; 101(6): e594-e601, 2023 08 08.
Artigo
Inglês
| MEDLINE | ID: mdl-37336766
18.
Home-Based Infusion of Alglucosidase Alfa Can Safely be Implemented in Adults with Late-Onset Pompe Disease: Lessons Learned from 18,380 Infusions.
BioDrugs
; 37(5): 685-698, 2023 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-37326923
19.
Response to Herbert et al.
Genet Med
; 19(11): 1283-1284, 2017 11.
Artigo
Inglês
| MEDLINE | ID: mdl-28661488
20.
Hearing in adults with Pompe disease.
J Inherit Metab Dis
; 35(2): 335-41, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22002441