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1.
Cardiac responses in paediatric Pompe disease in the ADVANCE patient cohort.
Cardiol Young
; 32(3): 364-373, 2022 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-34420548
2.
Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.
Genet Med
; 21(11): 2543-2551, 2019 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-31086307
3.
Low-dose agalsidase beta treatment in male pediatric patients with Fabry disease: A 5-year randomized controlled trial.
Mol Genet Metab
; 127(1): 86-94, 2019 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-30987917
4.
Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.
Genet Med
; 20(10): 1284-1294, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-29565424
5.
The value of knowing: preferences for genetic testing to diagnose rare muscle diseases.
Orphanet J Rare Dis
; 19(1): 173, 2024 Apr 22.
Artículo
en Inglés
| MEDLINE | ID: mdl-38649872
6.
Amlodipine prevents apoptotic cell death by correction of elevated intracellular calcium in a primary neuronal model of Batten disease (CLN3 disease).
Biochem Biophys Res Commun
; 436(4): 645-9, 2013 Jul 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-23769828
7.
Pharmacokinetics of Alglucosidase Alfa Manufactured at the 4000-L Scale in Participants with Pompe Disease: A Phase 3/4 Open-Label Study.
Clin Pharmacol Drug Dev
; 12(12): 1185-1193, 2023 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-37705424
8.
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.
Artículo
en Inglés
| MEDLINE | ID: mdl-37559825
9.
Efficacy and Safety of Avalglucosidase Alfa in Patients With Late-Onset Pompe Disease After 97 Weeks: A Phase 3 Randomized Clinical Trial.
JAMA Neurol
; 80(6): 558-567, 2023 06 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37036722
10.
Screening for calcium channel modulators in CLN3 siRNA knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intracellular calcium levels by selected L-type calcium channel blockers.
Biochim Biophys Acta
; 1810(2): 186-91, 2011 Feb.
Artículo
en Inglés
| MEDLINE | ID: mdl-20933060
11.
Motor Responses in Pediatric Pompe Disease in the ADVANCE Participant Cohort.
J Neuromuscul Dis
; 9(6): 713-730, 2022.
Artículo
en Inglés
| MEDLINE | ID: mdl-36214004
12.
Qualitative interviews to improve patient-reported outcome measures in late-onset Pompe disease: the patient perspective.
Orphanet J Rare Dis
; 16(1): 428, 2021 10 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-34641935
13.
Correction to: How is the Pharmaceutical Industry Structured to Optimize Pediatric Drug Development? Existing Pediatric Structure Models and Proposed Recommendations for Structural Enhancement.
Ther Innov Regul Sci
; 54(5): 1085, 2020 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-32865808
14.
Development and content validation of the Pediatric Oral Medicines Acceptability Questionnaires (P-OMAQ): patient-reported and caregiver-reported outcome measures.
J Patient Rep Outcomes
; 4(1): 80, 2020 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-33000327
15.
How is the Pharmaceutical Industry Structured to Optimize Pediatric Drug Development? Existing Pediatric Structure Models and Proposed Recommendations for Structural Enhancement.
Ther Innov Regul Sci
; 54(5): 1076-1084, 2020 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-32030690
16.
Characterization of early disease status in treatment-naive male paediatric patients with Fabry disease enrolled in a randomized clinical trial.
PLoS One
; 10(5): e0124987, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-25955246
17.
Failure to thrive: when to suspect inborn errors of metabolism.
Pediatrics
; 124(3): 972-9, 2009 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-19706585
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