Detalhe da pesquisa
1.
Phase I study of liver depot gene therapy in late-onset Pompe disease.
Mol Ther
; 31(7): 1994-2004, 2023 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-36805083
2.
Diagnosis and management of glycogen storage disease type IV, including adult polyglucosan body disease: A clinical practice resource.
Mol Genet Metab
; 138(3): 107525, 2023 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-36796138
3.
Early clinical phenotype of late onset Pompe disease: Lessons learned from newborn screening.
Mol Genet Metab
; 135(3): 179-185, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35123877
4.
Motor function and safety after allogeneic cord blood and cord tissue-derived mesenchymal stromal cells in cerebral palsy: An open-label, randomized trial.
Dev Med Child Neurol
; 64(12): 1477-1486, 2022 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-35811372
5.
Physical therapy assessment and whole-body magnetic resonance imaging findings in children with glycogen storage disease type IIIa: A clinical study and review of the literature.
Mol Genet Metab
; 134(3): 223-234, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34649782
6.
Higher dosing of alglucosidase alfa improves outcomes in children with Pompe disease: a clinical study and review of the literature.
Genet Med
; 22(5): 898-907, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31904026
7.
Improved muscle function in a phase I/II clinical trial of albuterol in Pompe disease.
Mol Genet Metab
; 129(2): 67-72, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31839530
8.
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32-13â¯Tâ¯>â¯G variant.
Mol Genet Metab
; 126(2): 106-116, 2019 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655185
9.
Correction of Biochemical Abnormalities and Improved Muscle Function in a Phase I/II Clinical Trial of Clenbuterol in Pompe Disease.
Mol Ther
; 26(9): 2304-2314, 2018 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30025991
10.
Physical Activity Levels of Children With Down Syndrome.
Pediatr Phys Ther
; 31(1): 33-41, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30507856
11.
Alglucosidase alfa enzyme replacement therapy as a therapeutic approach for a patient presenting with a PRKAG2 mutation.
Mol Genet Metab
; 120(1-2): 96-100, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-27692944
12.
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
13.
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
14.
Interventions for Gait Training in Children With Spinal Cord Impairments: A Scoping Review.
Pediatr Phys Ther
; 29(4): 342-349, 2017 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-28953180
15.
Respiratory muscle training (RMT) in late-onset Pompe disease (LOPD): Effects of training and detraining.
Mol Genet Metab
; 117(2): 120-8, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26381077
16.
Physical therapy management of infants and children with hypophosphatasia.
Mol Genet Metab
; 119(1-2): 14-9, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-27386757
17.
Characterization of gait in late onset Pompe disease.
Mol Genet Metab
; 116(3): 152-6, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26372341
18.
Adjunctive albuterol enhances the response to enzyme replacement therapy in late-onset Pompe disease.
FASEB J
; 28(5): 2171-6, 2014 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-24443373
19.
Correlation between quantitative whole-body muscle magnetic resonance imaging and clinical muscle weakness in Pompe disease.
Muscle Nerve
; 51(5): 722-30, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25155446
20.
Commentary on "Progression of Ankle Plantarflexion Contractures and Functional Decline in Duchenne Muscular Dystrophy: Implications for Physical Therapy Management".
Pediatr Phys Ther
; 31(1): 67, 2019 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30557284